Variant report

Variant	nsv914980
Chromosome Location	chr22:31966274-32024980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1528)
CpG islands
(count:489)
Chromatin interactive
region (count:97)
LncRNA
region (count:29)
Mature miRNA
region (count: 2)
miRNA target
sites (count:3)

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31985050-31985635	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:31982203-31982906	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:31975747-31976264	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:31999123-31999446	K562	blood:	n/a	n/a
5	ARID3A	chr22:31981496-31981872	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:31980671-31980891	K562	blood:	n/a	n/a
7	ARID3A	chr22:31976705-31977060	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:31980098-31980502	HepG2	liver:	n/a	n/a
9	ARID3A	chr22:31982299-31982647	K562	blood:	n/a	n/a
10	ARID3A	chr22:31981145-31981838	K562	blood:	n/a	n/a
11	ATF1	chr22:31999155-31999527	K562	blood:	n/a	n/a
12	ATF2	chr22:31978468-31978850	GM12878	blood:	n/a	n/a
13	ATF2	chr22:31978463-31978865	GM12878	blood:	n/a	n/a
14	ATF2	chr22:32012203-32012737	GM12878	blood:	n/a	n/a
15	BATF	chr22:31978465-31978783	GM12878	blood:	n/a	n/a
16	BATF	chr22:31978255-31978866	GM12878	blood:	n/a	n/a
17	BATF	chr22:31982695-31982970	GM12878	blood:	n/a	n/a
18	BATF	chr22:32005495-32005727	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:31978425-31978790	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:31978548-31978795	GM12878	blood:	n/a	n/a
21	BCL3	chr22:32016941-32017460	GM12878	blood:	n/a	n/a
22	BCL3	chr22:32018004-32018317	GM12878	blood:	n/a	n/a
23	BCL3	chr22:32016902-32017368	GM12878	blood:	n/a	n/a
24	BCL3	chr22:32015300-32016448	GM12878	blood:	n/a	n/a
25	BCL3	chr22:32017701-32017981	GM12878	blood:	n/a	n/a
26	BCL3	chr22:32017464-32017856	GM12878	blood:	n/a	n/a
27	BCL3	chr22:32012233-32012908	GM12878	blood:	n/a	n/a
28	BCL3	chr22:32013784-32014988	GM12878	blood:	n/a	n/a
29	BCLAF1	chr22:32012185-32012725	GM12878	blood:	n/a	n/a
30	BHLHE40	chr22:32023280-32023462	K562	blood:	n/a	n/a
31	BHLHE40	chr22:32022412-32022913	K562	blood:	n/a	n/a
32	BHLHE40	chr22:31999174-31999407	K562	blood:	n/a	n/a
33	BHLHE40	chr22:32021885-32021930	K562	blood:	n/a	n/a
34	BHLHE40	chr22:31978445-31978773	GM12878	blood:	n/a	n/a
35	BHLHE40	chr22:32012380-32012640	GM12878	blood:	n/a	n/a
36	BRCA1	chr22:31976050-31976213	HepG2	liver:	n/a	n/a
37	CBX3	chr22:32022498-32023013	K562	blood:	n/a	n/a
38	CCNT2	chr22:32016890-32016983	K562	blood:	n/a	n/a
39	CCNT2	chr22:31999170-31999459	K562	blood:	n/a	chr22:31999276-31999296
40	CCNT2	chr22:32021680-32022084	K562	blood:	n/a	n/a
41	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
42	CCNT2	chr22:31981038-31981609	K562	blood:	n/a	chr22:31981357-31981377 chr22:31981312-31981332
43	CEBPB	chr22:31978481-31978733	A549	lung:	n/a	chr22:31978631-31978642
44	CEBPB	chr22:31978475-31978814	IMR90	lung:	n/a	chr22:31978631-31978642
45	CEBPB	chr22:31982015-31982795	MCF-7	breast:	n/a	n/a
46	CEBPB	chr22:31978461-31978774	K562	blood:	n/a	chr22:31978631-31978642
47	CEBPB	chr22:31981399-31981725	K562	blood:	n/a	chr22:31981552-31981565
48	CEBPB	chr22:31978561-31978722	Hela-S3	cervix:	n/a	chr22:31978631-31978642
49	CEBPB	chr22:31982360-31982633	K562	blood:	n/a	n/a
50	CEBPB	chr22:31978326-31978925	GM12878	blood:	n/a	chr22:31978631-31978642

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32014422-32014472	SK-N-SH	brain:	n/a
2	chr22:32014422-32014472	SK-N-SH	brain:	n/a
3	chr22:32014422-32014472	HEK293	kidney:	embryo
4	chr22:32014422-32014472	IMR90	lung:	fetal
5	chr22:31998253-31998303	Jurkat	blood:	n/a
6	chr22:32015030-32015080	AG09319	gingival:	n/a
7	chr22:32014422-32014472	LNCaP	prostate:	n/a
8	chr22:32021249-32021299	HAEpiC	amniotic membrane:	n/a
9	chr22:32021249-32021299	GM12892	blood:	n/a
10	chr22:32014422-32014472	ProgFib	skin:	n/a
11	chr22:32021249-32021299	Jurkat	blood:	n/a
12	chr22:32021249-32021299	RPTEC	kidney:	n/a
13	chr22:32024802-32024852	SK-N-MC	brain:	n/a
14	chr22:32015030-32015080	H1-hESC	embryonic stem cell:	embryo
15	chr22:32022314-32022364	BE2_C	brain:	n/a
16	chr22:32015030-32015080	MCF10A-Er-Src	breast:	n/a
17	chr22:32007224-32007274	HRE	kidney:	n/a
18	chr22:32014422-32014472	AG04449	skin:	fetal
19	chr22:32014422-32014472	K562	blood:	n/a
20	chr22:32021249-32021299	NHDF-neo	bronchial:	n/a
21	chr22:32015384-32015434	HRPEpiC	eye:	n/a
22	chr22:32015030-32015080	GM19239	blood:	n/a
23	chr22:32014422-32014472	PFSK-1	brain:	n/a
24	chr22:32015030-32015080	HRCEpiC	kidney:	n/a
25	chr22:32015384-32015434	Caco-2	colon:	n/a
26	chr22:31998253-31998303	RPTEC	kidney:	n/a
27	chr22:32024802-32024852	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:32022314-32022364	SKMC	muscle:	n/a
29	chr22:32007224-32007274	GM12892	blood:	n/a
30	chr22:32022314-32022364	GM12878	blood:	n/a
31	chr22:32014422-32014472	HL-60	blood:	n/a
32	chr22:31998253-31998303	Caco-2	colon:	n/a
33	chr22:32007224-32007274	NB4	blood:	n/a
34	chr22:32022314-32022364	PrEC	prostate:	n/a
35	chr22:32007224-32007274	NHBE	bronchial:	n/a
36	chr22:32024802-32024852	HRPEpiC	eye:	n/a
37	chr22:32007224-32007274	Caco-2	colon:	n/a
38	chr22:32007224-32007274	H1-hESC	embryonic stem cell:	embryo
39	chr22:32015384-32015434	SK-N-SH_RA	brain:	n/a
40	chr22:32014422-32014472	AG10803	skin:	n/a
41	chr22:32007224-32007274	GM19239	blood:	n/a
42	chr22:32015030-32015080	RPTEC	kidney:	n/a
43	chr22:32015384-32015434	AG10803	skin:	n/a
44	chr22:32021249-32021299	NHBE	bronchial:	n/a
45	chr22:31998253-31998303	HCM	heart:	n/a
46	chr22:32015384-32015434	HPAEpiC	pulmonary alveolar:	n/a
47	chr22:32021249-32021299	HIPEpiC	eye:	n/a
48	chr22:32021249-32021299	K562	blood:	n/a
49	chr22:32022314-32022364	SAEC	small airway:	n/a
50	chr22:32014422-32014472	SK-N-SH_RA	brain:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:32013812..32017033-chr22:32024155..32027288,4	MCF-7	breast:
2	chr22:32007884..32012411-chr22:32016194..32020167,5	MCF-7	breast:
3	22:32012966-32043914..22:32347255-32351014	K562	blood:
4	chr22:32014846..32016763-chr22:32018159..32020204,2	MCF-7	breast:
5	chr22:32016532..32018838-chr22:32019395..32021980,2	MCF-7	breast:
6	chr22:31982333..31984122-chr22:32028532..32031400,2	MCF-7	breast:
7	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
8	chr22:32017352..32019493-chr22:32020509..32023823,4	MCF-7	breast:
9	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
10	chr22:31883857..31886637-chr22:31981082..31982696,2	MCF-7	breast:
11	chr22:32006220..32009486-chr22:32009995..32012615,3	K562	blood:
12	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
13	22:31961151-31976153..22:32513817-32522138	K562	blood:
14	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
15	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:
16	22:32012966-32043914..22:32513817-32522138	K562	blood:
17	chr22:32021921..32023710-chr22:32058064..32060097,2	K562	blood:
18	chr22:32000648..32004011-chr22:32006419..32009000,3	K562	blood:
19	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:
20	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
21	chr2:230030408..230031265-chr22:31999565..32000070,2	MCF-7	breast:
22	22:31961151-31976153..22:32284948-32287956	K562	blood:
23	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:
24	22:32012966-32043914..22:32665993-32670527	K562	blood:
25	chr22:31998415..32000833-chr22:32004854..32006802,2	MCF-7	breast:
26	22:32012966-32043914..22:32360288-32405313	K562	blood:
27	chr22:31980240..31982872-chr22:32023554..32027638,4	MCF-7	breast:
28	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
29	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
30	chr22:31974704..31977587-chr22:32057867..32059822,2	MCF-7	breast:
31	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
32	chr22:31971494..31974230-chr22:31978684..31980749,2	K562	blood:
33	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
34	chr1:11967958..11969802-chr22:32000231..32001751,4	MCF-7	breast:
35	chr22:31996880..31998541-chr22:31999926..32002535,2	K562	blood:
36	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
37	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
38	chr22:31995326..31999503-chr22:32025440..32027156,3	MCF-7	breast:
39	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:
40	chr22:31996113..31998454-chr22:32024863..32027924,3	MCF-7	breast:
41	chr22:31955553..31958257-chr22:31980841..31983797,2	MCF-7	breast:
42	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
43	chr22:31968452..31970023-chr22:32025865..32027475,2	MCF-7	breast:
44	chr22:31971494..31974230-chr22:31978684..31980749,2	K562	blood:
45	chr22:31970328..31972082-chr22:32024479..32026454,2	K562	blood:
46	22:31961151-31976153..22:33030812-33041554	K562	blood:
47	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
48	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
49	chr22:31957003..31957916-chr22:31980133..31980925,2	K562	blood:
50	chr22:31980900..31983627-chr22:32021612..32023402,2	K562	blood:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRG1-1	chr22:31976074-31976350	NONHSAT084901
2	lnc-DRG1-1	chr22:31981054-31981112	NONHSAT084900
3	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084909
4	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084909
5	lnc-DRG1-5	chr22:32010153-32010846	NONHSAT084907
6	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084907
7	lnc-DRG1-5	chr22:32009821-32009841	NONHSAT084906
8	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084907
9	lnc-DRG1-1	chr22:31973934-31974438	NONHSAT084900
10	lnc-DRG1-5	chr22:32010775-32010846	NONHSAT084906
11	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084909
12	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084909
13	lnc-DRG1-3	chr22:32007752-32007826	NONHSAT084904
14	lnc-DRG1-5	chr22:32014198-32014212	NONHSAT084906
15	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084906
16	lnc-PRR14L-1	chr22:32021864-32022002	NONHSAT084911
17	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084911
18	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084906
19	lnc-PRR14L-1	chr22:32023989-32024196	NONHSAT084910
20	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084906
21	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084910
22	lnc-DRG1-1	chr22:31979861-31979958	NONHSAT084900
23	lnc-DRG1-5	chr22:32010372-32011265	NONHSAT084909
24	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084907
25	lnc-DRG1-1	chr22:31979861-31979955	NONHSAT084901
26	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084907
27	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084907
28	lnc-DRG1-3	chr22:32007985-32008428	NONHSAT084904
29	lnc-PRR14L-1	chr22:32021808-32022002	NONHSAT084910

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7109-5p	chr22:32017492-32017512	MIMAT0028115
hsa-miR-7109-3p	chr22:32017459-32017480	MIMAT0028116

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PISD	hsa-miR-16-5p	chr22:32014778-32014771
2	PISD	hsa-miR-16-5p	chr22:32015242-32015263
3	PISD	hsa-miR-16-5p	chr22:32014772-32014796

Variant related genes	Relation type
SFI1	TF binding region
PISD	TF binding region
SFI1	CpG island
PISD	CpG island
ENSG00000100150	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000238910	chromatin interactions
ENSG00000227813	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000229169	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000183531	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000224050	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000120451	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000251890	chromatin interactions

Extended variants
information (count: 2592 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2592 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2092905	chr22:31966274-31966275	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138091439	chr22:31966297-31966298	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs576690870	chr22:31966308-31966309	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs9609329	chr22:31966313-31966314	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs545155284	chr22:31966334-31966335	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs565013670	chr22:31966349-31966350	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs527257618	chr22:31966378-31966379	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs541031491	chr22:31966392-31966393	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs142671237	chr22:31966412-31966413	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs145049425	chr22:31966435-31966436	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs10645438	chr22:31966436-31966437	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs530049130	chr22:31966462-31966463	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs180808234	chr22:31966494-31966495	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs541173797	chr22:31966561-31966562	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs569549130	chr22:31966581-31966582	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs532447725	chr22:31966586-31966587	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs146288741	chr22:31966588-31966589	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs73400227	chr22:31966600-31966601	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138179121	chr22:31966614-31966615	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs35161158	chr22:31966642-31966643	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs5994403	chr22:31966650-31966651	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568652022	chr22:31966658-31966659	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs537777091	chr22:31966706-31966707	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557570820	chr22:31966737-31966738	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs149585822	chr22:31966742-31966743	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs549763089	chr22:31966747-31966748	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540054840	chr22:31966799-31966800	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs558328996	chr22:31966869-31966870	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs144303111	chr22:31966948-31966949	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs540665191	chr22:31967007-31967008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs73160657	chr22:31967062-31967063	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529175331	chr22:31967068-31967069	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs574374264	chr22:31967085-31967086	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs567214116	chr22:31967087-31967088	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs187592026	chr22:31967088-31967089	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs548754677	chr22:31967108-31967109	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs565582295	chr22:31967112-31967113	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs534027215	chr22:31967116-31967117	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs190915730	chr22:31967141-31967142	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs552356702	chr22:31967159-31967160	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs148764841	chr22:31967204-31967205	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs528628782	chr22:31967224-31967225	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs181649279	chr22:31967253-31967254	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs376278978	chr22:31967282-31967283	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs144797078	chr22:31967284-31967285	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs185933375	chr22:31967294-31967295	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs551261227	chr22:31967324-31967325	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs372548931	chr22:31967413-31967414	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs571170460	chr22:31967464-31967465	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs539993563	chr22:31967497-31967498	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Breast cancer	21858162	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2187 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
3	chr22:31927400-31970000	Weak transcription	NH-A	brain
4	chr22:31927400-31970200	Weak transcription	Fetal Lung	lung
5	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
6	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
7	chr22:31927600-31974200	Weak transcription	Small Intestine	intestine
8	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
9	chr22:31933200-31971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
11	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31935600-31970000	Weak transcription	HMEC	breast
14	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:31941400-31981400	Weak transcription	NHEK	skin
16	chr22:31947000-31970200	Weak transcription	Brain Substantia Nigra	brain
17	chr22:31947000-31970200	Weak transcription	Fetal Muscle Leg	muscle
18	chr22:31947200-31969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:31947400-31968200	Weak transcription	Brain Germinal Matrix	brain
20	chr22:31947400-31968800	Weak transcription	Gastric	stomach
21	chr22:31947400-31968800	Weak transcription	Pancreas	Pancrea
22	chr22:31947400-31969000	Weak transcription	Fetal Brain Female	brain
23	chr22:31947400-31969000	Weak transcription	Lung	lung
24	chr22:31947400-31969200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:31947400-31970200	Weak transcription	Ovary	ovary
26	chr22:31947400-31971000	Weak transcription	Aorta	Aorta
27	chr22:31947400-31972800	Weak transcription	Esophagus	oesophagus
28	chr22:31947800-31968800	Weak transcription	Spleen	Spleen
29	chr22:31947800-31969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:31947800-31969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:31947800-31970200	Weak transcription	Fetal Intestine Large	intestine
32	chr22:31947800-31970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:31947800-31971000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:31947800-31971200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:31948000-31968400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:31948000-31973400	Weak transcription	Liver	Liver
38	chr22:31948200-31968800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:31949200-31971800	Weak transcription	NHLF	lung
41	chr22:31949200-31973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
43	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
44	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:31949800-31976400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr22:31952800-31967400	Strong transcription	Fetal Thymus	thymus
47	chr22:31954000-31968800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr22:31954000-31968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:31954000-31968800	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:31954000-31970000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links