Variant report

Variant	nsv482294
Chromosome Location	chr22:21433071-21616240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4235)
CpG islands
(count:610)
Chromatin interactive
region (count:58)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4235 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21462458-21463637	K562	blood:	n/a	n/a
2	ARID3A	chr22:21592118-21592318	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21456951-21457433	K562	blood:	n/a	n/a
4	ARID3A	chr22:21452454-21452781	K562	blood:	n/a	n/a
5	ATF1	chr22:21454708-21455083	K562	blood:	n/a	n/a
6	ATF1	chr22:21452396-21452913	K562	blood:	n/a	n/a
7	ATF1	chr22:21456948-21457439	K562	blood:	n/a	n/a
8	ATF1	chr22:21447950-21448376	K562	blood:	n/a	n/a
9	ATF1	chr22:21459817-21459848	K562	blood:	n/a	n/a
10	ATF2	chr22:21456997-21457475	GM12878	blood:	n/a	n/a
11	ATF2	chr22:21456969-21457507	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr22:21457055-21457365	GM12878	blood:	n/a	n/a
13	ATF2	chr22:21457002-21457536	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr22:21456887-21457665	K562	blood:	n/a	n/a
15	ATF3	chr22:21505263-21505378	K562	blood:	n/a	chr22:21505324-21505335 chr22:21505327-21505337 chr22:21505324-21505334 chr22:21505323-21505336 chr22:21505325-21505338 chr22:21505323-21505338 chr22:21505325-21505336 chr22:21505327-21505335 chr22:21505315-21505335 chr22:21505325-21505336 chr22:21505324-21505334 chr22:21505327-21505334 chr22:21505324-21505337 chr22:21505324-21505337
16	ATF3	chr22:21456845-21457542	K562	blood:	n/a	n/a
17	BACH1	chr22:21457063-21457536	K562	blood:	n/a	n/a
18	BACH1	chr22:21457038-21457521	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr22:21462599-21463625	K562	blood:	n/a	n/a
20	BACH1	chr22:21454361-21454398	K562	blood:	n/a	n/a
21	BACH1	chr22:21462948-21463323	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr22:21521921-21522186	GM12878	blood:	n/a	n/a
23	BATF	chr22:21530065-21530551	GM12878	blood:	n/a	n/a
24	BATF	chr22:21536563-21536760	GM12878	blood:	n/a	n/a
25	BATF	chr22:21561792-21562184	GM12878	blood:	n/a	n/a
26	BATF	chr22:21468628-21469019	GM12878	blood:	n/a	n/a
27	BATF	chr22:21537247-21537499	GM12878	blood:	n/a	n/a
28	BATF	chr22:21545572-21545926	GM12878	blood:	n/a	n/a
29	BATF	chr22:21595541-21595907	GM12878	blood:	n/a	n/a
30	BATF	chr22:21521062-21521331	GM12878	blood:	n/a	n/a
31	BATF	chr22:21524608-21524792	GM12878	blood:	n/a	n/a
32	BATF	chr22:21612702-21613053	GM12878	blood:	n/a	n/a
33	BATF	chr22:21526589-21526811	GM12878	blood:	n/a	n/a
34	BATF	chr22:21604490-21604702	GM12878	blood:	n/a	n/a
35	BATF	chr22:21535504-21535712	GM12878	blood:	n/a	n/a
36	BATF	chr22:21473984-21474189	GM12878	blood:	n/a	n/a
37	BATF	chr22:21487931-21488176	GM12878	blood:	n/a	n/a
38	BATF	chr22:21539391-21539831	GM12878	blood:	n/a	n/a
39	BATF	chr22:21474334-21474742	GM12878	blood:	n/a	n/a
40	BATF	chr22:21532564-21532829	GM12878	blood:	n/a	n/a
41	BATF	chr22:21598826-21599972	GM12878	blood:	n/a	n/a
42	BATF	chr22:21514000-21514283	GM12878	blood:	n/a	n/a
43	BATF	chr22:21596510-21596681	GM12878	blood:	n/a	n/a
44	BATF	chr22:21520245-21520522	GM12878	blood:	n/a	n/a
45	BATF	chr22:21488874-21489181	GM12878	blood:	n/a	n/a
46	BATF	chr22:21533096-21533364	GM12878	blood:	n/a	n/a
47	BATF	chr22:21582473-21582683	GM12878	blood:	n/a	n/a
48	BATF	chr22:21597069-21597517	GM12878	blood:	n/a	n/a
49	BATF	chr22:21544870-21545207	GM12878	blood:	n/a	n/a
50	BATF	chr22:21488893-21489171	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21505676-21505726	NB4	blood:	n/a
2	chr22:21538194-21538244	HPAEpiC	pulmonary alveolar:	n/a
3	chr22:21541635-21541685	HMEC	breast:	n/a
4	chr22:21482479-21482529	SK-N-SH	brain:	n/a
5	chr22:21539377-21539427	Hela-S3	cervix:	n/a
6	chr22:21541635-21541685	HL-60	blood:	n/a
7	chr22:21537792-21537842	GM06990	blood:	n/a
8	chr22:21567227-21567277	ovcar-3	ovarian:	n/a
9	chr22:21505345-21505395	HL-60	blood:	n/a
10	chr22:21480518-21480568	AG09319	gingival:	n/a
11	chr22:21480518-21480568	HRE	kidney:	n/a
12	chr22:21567227-21567277	K562	blood:	n/a
13	chr22:21479855-21479905	HAEpiC	amniotic membrane:	n/a
14	chr22:21505676-21505726	PFSK-1	brain:	n/a
15	chr22:21541635-21541685	LNCaP	prostate:	n/a
16	chr22:21482479-21482529	ECC-1	luminal epithelium:	n/a
17	chr22:21567227-21567277	CMK	blood:	n/a
18	chr22:21482479-21482529	K562	blood:	n/a
19	chr22:21505676-21505726	IMR90	lung:	fetal
20	chr22:21541635-21541685	ovcar-3	ovarian:	n/a
21	chr22:21505676-21505726	Caco-2	colon:	n/a
22	chr22:21539377-21539427	BJ	skin:	n/a
23	chr22:21482479-21482529	NHDF-neo	bronchial:	n/a
24	chr22:21541635-21541685	U87	brain:	n/a
25	chr22:21505345-21505395	HEEpiC	esophagus:	n/a
26	chr22:21541635-21541685	NB4	blood:	n/a
27	chr22:21537792-21537842	LNCaP	prostate:	n/a
28	chr22:21538194-21538244	K562	blood:	n/a
29	chr22:21480518-21480568	GM12878	blood:	n/a
30	chr22:21567227-21567277	SK-N-MC	brain:	n/a
31	chr22:21541635-21541685	HIPEpiC	eye:	n/a
32	chr22:21538194-21538244	HL-60	blood:	n/a
33	chr22:21505676-21505726	NT2-D1	testis:	n/a
34	chr22:21480518-21480568	HCM	heart:	n/a
35	chr22:21505345-21505395	H1-hESC	embryonic stem cell:	embryo
36	chr22:21480518-21480568	HRPEpiC	eye:	n/a
37	chr22:21505345-21505395	PrEC	prostate:	n/a
38	chr22:21480518-21480568	GM06990	blood:	n/a
39	chr22:21480518-21480568	AG04449	skin:	fetal
40	chr22:21480518-21480568	HRCEpiC	kidney:	n/a
41	chr22:21541635-21541685	HCT-116	colon:	n/a
42	chr22:21541635-21541685	SKMC	muscle:	n/a
43	chr22:21480518-21480568	AG10803	skin:	n/a
44	chr22:21538194-21538244	SAEC	small airway:	n/a
45	chr22:21539377-21539427	AG04449	skin:	fetal
46	chr22:21482479-21482529	NH-A	brain:	n/a
47	chr22:21480518-21480568	Caco-2	colon:	n/a
48	chr22:21538194-21538244	BE2_C	brain:	n/a
49	chr22:21479855-21479905	HCF	heart:	n/a
50	chr22:21541635-21541685	HNPCEpiC	eye:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:21334989..21337850-chr22:21456827..21459546,2	K562	blood:
2	chr22:21336242..21338866-chr22:21453255..21455106,2	K562	blood:
3	chr22:21369240..21371713-chr22:21452349..21454093,2	K562	blood:
4	chr22:21314800..21316392-chr22:21454460..21457208,2	K562	blood:
5	chr22:21431385..21433960-chr22:21448312..21450719,2	MCF-7	breast:
6	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
7	chr22:21427307..21429775-chr22:21451659..21453902,2	K562	blood:
8	chr22:21436101..21438308-chr22:21441491..21444463,2	K562	blood:
9	chr22:21348532..21350685-chr22:21453924..21456734,2	K562	blood:
10	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
11	chr22:21333668..21339906-chr22:21442541..21446559,5	K562	blood:
12	chr22:21443711..21446922-chr22:21450828..21455317,4	K562	blood:
13	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
14	chr22:21448752..21453745-chr22:21453926..21457234,4	MCF-7	breast:
15	chr22:21354959..21358124-chr22:21432393..21434030,3	MCF-7	breast:
16	chr22:21433522..21434065-chr22:21457136..21457771,2	K562	blood:
17	chr22:21431214..21434190-chr22:21451363..21455420,3	K562	blood:
18	chr22:21440687..21442730-chr22:21443023..21445783,2	K562	blood:
19	chr22:21443711..21446922-chr22:21450828..21455317,4	K562	blood:
20	chr22:21440687..21442730-chr22:21443023..21445783,2	K562	blood:
21	chr22:21445296..21448389-chr22:21448613..21450723,3	K562	blood:
22	chr22:21442941..21445162-chr22:21452590..21455058,2	K562	blood:
23	chr22:21445053..21447572-chr22:21455705..21457230,2	K562	blood:
24	chr22:21450378..21453014-chr22:21461236..21463100,2	K562	blood:
25	chr22:21382824..21385331-chr22:21454579..21456843,2	MCF-7	breast:
26	chr22:21394676..21396579-chr22:21432484..21435517,3	K562	blood:
27	chr22:21353014..21357310-chr22:21452902..21457294,6	MCF-7	breast:
28	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
29	chr22:21368793..21370356-chr22:21455117..21457274,2	K562	blood:
30	chr22:21321706..21322599-chr22:21456736..21457719,2	K562	blood:
31	chr22:21450259..21452150-chr22:21453266..21455046,2	K562	blood:
32	chr22:21428956..21432953-chr22:21434510..21436759,3	K562	blood:
33	chr22:21270849..21272651-chr22:21455826..21458172,2	MCF-7	breast:
34	chr22:21355019..21358979-chr22:21433564..21435999,3	K562	blood:
35	chr22:21335711..21339145-chr22:21445059..21447466,3	K562	blood:
36	chr22:21354638..21358198-chr22:21455223..21459884,5	MCF-7	breast:
37	chr22:21451265..21452805-chr22:21457465..21459683,2	K562	blood:
38	chr22:21272974..21274482-chr22:21453648..21456329,2	MCF-7	breast:
39	chr22:21447333..21449666-chr22:21453179..21455036,3	K562	blood:
40	chr22:21367571..21370293-chr22:21455185..21457274,3	K562	blood:
41	chr22:21436101..21438308-chr22:21441491..21444463,2	K562	blood:
42	chr22:21447333..21449666-chr22:21453179..21455036,3	K562	blood:
43	chr22:21427520..21431698-chr22:21432126..21436010,5	K562	blood:
44	chr22:21419634..21422503-chr22:21431197..21433182,2	K562	blood:
45	chr22:21445296..21448389-chr22:21448613..21450723,3	K562	blood:
46	chr22:21398617..21400230-chr22:21452490..21454260,2	K562	blood:
47	chr22:21453029..21455213-chr22:21459459..21461681,2	K562	blood:
48	chr22:21424579..21427045-chr22:21431439..21434141,2	K562	blood:
49	chr22:21431214..21434190-chr22:21451363..21455420,3	K562	blood:
50	chr22:21270165..21272988-chr22:21455197..21456764,2	MCF-7	breast:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGT2-1	chr22:21532181-21532838	ENSG00000234503
2	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
3	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
4	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
5	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
6	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
7	lnc-AP000552.1-2	chr22:21540410-21541366	ENSG00000215498.4
8	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
9	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
10	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
11	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
12	lnc-AP000552.1-2	chr22:21537560-21537611	ENSG00000215498.4
13	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
14	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
15	lnc-AP000552.1-2	chr22:21525370-21525497	ENSG00000215498.4
16	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
17	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
18	lnc-AP000552.1-2	chr22:21535741-21537263	ENSG00000215498.4
19	lnc-AP000552.1-2	chr22:21546011-21546438	ENSG00000215498.4
20	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
21	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
22	lnc-AP000552.1-2	chr22:21524762-21524894	ENSG00000215498.4
23	lnc-AP000552.1-2	chr22:21532720-21532785	ENSG00000215498.4
24	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
25	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
26	lnc-AP000552.1-2	chr22:21524154-21524293	ENSG00000215498.4
27	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4
28	lnc-AP000552.1-2	chr22:21524235-21524293	ENSG00000215498.4
29	lnc-AP000552.1-2	chr22:21522118-21522258	ENSG00000215498.4
30	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
31	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
32	lnc-AP000552.1-2	chr22:21524762-21525141	ENSG00000215498.4
33	lnc-AP000552.1-2	chr22:21527733-21527819	ENSG00000215498.4
34	lnc-AP000552.1-2	chr22:21522142-21522258	ENSG00000215498.4
35	lnc-AP000552.1-2	chr22:21534785-21534846	ENSG00000215498.4
36	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
37	lnc-AP000552.1-2	chr22:21524762-21524944	ENSG00000215498.4
38	lnc-AP000552.1-2	chr22:21522174-21522258	ENSG00000215498.4
39	lnc-AP000552.1-2	chr22:21535312-21535345	ENSG00000215498.4
40	lnc-AP000552.1-2	chr22:21524102-21524293	ENSG00000215498.4
41	lnc-GGT2-1	chr22:21534049-21534164	ENSG00000234503
42	lnc-AP000552.1-2	chr22:21524762-21524786	ENSG00000215498.4

No data

Variant related genes	Relation type
ENSG00000197210	TF binding region
ENSG00000234503	TF binding region
FAM230B	TF binding region
POM121L7	TF binding region
GGT2	TF binding region
ENSG00000224688	TF binding region
BCRP2	TF binding region
ENSG00000197210	CpG island
ENSG00000234503	CpG island
FAM230B	CpG island
POM121L7	CpG island
GGT2	CpG island
ENSG00000224688	CpG island
BCRP2	CpG island
ENSG00000161149	chromatin interactions
ENSG00000272829	chromatin interactions
ENSG00000206145	chromatin interactions
ENSG00000099942	chromatin interactions
ENSG00000099957	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000169668	chromatin interactions
ENSG00000099949	chromatin interactions
ENSG00000183773	chromatin interactions
ENSG00000249680	chromatin interactions

Extended variants
information (count: 3074 )
Associated
traits (count: 231 )

Variant overlapped rSNPs/rCNVs (count:3074 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537447366	chr22:21433089-21433090	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs367684758	chr22:21433096-21433097	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192883212	chr22:21433173-21433174	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553522721	chr22:21433190-21433191	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114740568	chr22:21433200-21433201	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369261092	chr22:21433201-21433202	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150718911	chr22:21433217-21433218	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537506796	chr22:21433229-21433230	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182678512	chr22:21433230-21433231	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12167205	chr22:21433231-21433232	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553074289	chr22:21433288-21433289	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375057915	chr22:21433291-21433292	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6005530	chr22:21433311-21433312	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565526858	chr22:21433360-21433361	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575887942	chr22:21433365-21433366	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544212160	chr22:21433382-21433383	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560893739	chr22:21433402-21433403	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114322467	chr22:21433416-21433417	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546682849	chr22:21433435-21433436	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373325992	chr22:21433436-21433437	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532285024	chr22:21433444-21433445	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142431666	chr22:21433446-21433447	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569125930	chr22:21433459-21433460	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145975329	chr22:21433476-21433477	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550540804	chr22:21433535-21433536	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs186782123	chr22:21433583-21433584	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536264570	chr22:21433585-21433586	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs531954289	chr22:21433586-21433587	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140110879	chr22:21433609-21433610	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs573260172	chr22:21433622-21433623	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs143805413	chr22:21433623-21433624	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112542085	chr22:21433632-21433633	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs71318704	chr22:21433639-21433640	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558919581	chr22:21433653-21433654	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs145841141	chr22:21433674-21433675	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs544892295	chr22:21433731-21433732	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs534655512	chr22:21433801-21433802	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9625476	chr22:21433804-21433805	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540235554	chr22:21433814-21433815	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192644693	chr22:21433826-21433827	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532145782	chr22:21433868-21433869	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545965268	chr22:21433886-21433887	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs562573503	chr22:21433895-21433896	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542493194	chr22:21433913-21433914	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs77008857	chr22:21433990-21433991	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs184750629	chr22:21434044-21434045	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568025377	chr22:21434046-21434047	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs189075767	chr22:21434048-21434049	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564351325	chr22:21434114-21434115	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370265468	chr22:21434201-21434202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:231)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21427600-21435600	Strong transcription	Right Atrium	heart
2	chr22:21428600-21434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:21428800-21435000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:21431800-21434800	Weak transcription	Spleen	Spleen
5	chr22:21432600-21433800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:21433000-21433800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:21433000-21433800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:21434800-21435000	Bivalent Enhancer	Right Ventricle	heart
9	chr22:21434800-21435200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:21434800-21435600	Enhancers	Spleen	Spleen
11	chr22:21435000-21435200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:21435200-21435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:21435600-21457000	Weak transcription	Right Atrium	heart
14	chr22:21436600-21437000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:21447000-21449600	Enhancers	K562	blood
16	chr22:21447000-21449800	Enhancers	Fetal Intestine Small	intestine
17	chr22:21447200-21447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:21447200-21448200	Enhancers	Pancreas	Pancrea
19	chr22:21447400-21447600	Enhancers	Fetal Intestine Large	intestine
20	chr22:21447600-21452400	Weak transcription	Fetal Intestine Large	intestine
21	chr22:21447800-21448400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:21448400-21449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:21448400-21454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:21449800-21452400	Weak transcription	Fetal Intestine Small	intestine
25	chr22:21452400-21452600	Enhancers	Fetal Intestine Large	intestine
26	chr22:21452400-21452600	Bivalent Enhancer	K562	blood
27	chr22:21452400-21452800	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr22:21452600-21453000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:21452800-21454200	Weak transcription	Fetal Intestine Small	intestine
30	chr22:21453000-21457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:21453600-21457000	Enhancers	Hela-S3	cervix
32	chr22:21454400-21454600	Bivalent Enhancer	Osteobl	bone
33	chr22:21454400-21455200	Enhancers	Placenta	Placenta
34	chr22:21454400-21455400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:21454400-21457400	Enhancers	NHDF-Ad	bronchial
36	chr22:21454400-21457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:21454400-21457600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:21454400-21457600	Enhancers	NHLF	lung
39	chr22:21454600-21457000	Enhancers	Osteobl	bone
40	chr22:21454800-21455200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:21454800-21457000	Enhancers	A549	lung
42	chr22:21454800-21457200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:21454800-21457400	Enhancers	HMEC	breast
44	chr22:21454800-21457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:21454800-21457600	Enhancers	HSMM	muscle
46	chr22:21454800-21457600	Enhancers	NH-A	brain
47	chr22:21455000-21455200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
48	chr22:21455000-21456400	Enhancers	NHEK	skin
49	chr22:21455000-21457200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:21455000-21457600	Enhancers	Muscle Satellite Cultured Cells	--

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