Variant report

Variant	nsv522889
Chromosome Location	chr1:171749665-171755071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:665)
CpG islands
(count:917)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:171750045-171750820	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:171749992-171750949	K562	blood:	n/a	n/a
3	ATF1	chr1:171750164-171751030	K562	blood:	n/a	n/a
4	ATF2	chr1:171750327-171750781	GM12878	blood:	n/a	n/a
5	ATF2	chr1:171750215-171750730	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:171750032-171751027	GM12878	blood:	n/a	n/a
7	ATF3	chr1:171750151-171750960	K562	blood:	n/a	n/a
8	BACH1	chr1:171750805-171751112	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:171750084-171750362	K562	blood:	n/a	n/a
10	BCL3	chr1:171750054-171751171	A549	lung:	n/a	chr1:171750264-171750277 chr1:171750404-171750417
11	BCLAF1	chr1:171750111-171751116	GM12878	blood:	n/a	chr1:171750264-171750277 chr1:171750404-171750417
12	BHLHE40	chr1:171750224-171750946	HepG2	liver:	n/a	n/a
13	BHLHE40	chr1:171750125-171751177	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:171749999-171751250	K562	blood:	n/a	n/a
15	BRCA1	chr1:171750076-171750990	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr1:171749560-171751124	K562	blood:	n/a	n/a
17	CBX3	chr1:171750008-171750957	K562	blood:	n/a	n/a
18	CCNT2	chr1:171750192-171751000	K562	blood:	n/a	n/a
19	CEBPB	chr1:171750392-171750584	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:171750078-171751294	Hela-S3	cervix:	n/a	chr1:171750715-171750723
21	CEBPB	chr1:171750141-171750751	K562	blood:	n/a	chr1:171750715-171750723
22	CEBPB	chr1:171750366-171751001	H1-hESC	embryonic stem cell:	n/a	chr1:171750715-171750723
23	CEBPB	chr1:171750004-171750995	K562	blood:	n/a	chr1:171750715-171750723
24	CEBPD	chr1:171750090-171751107	K562	blood:	n/a	n/a
25	CEBPD	chr1:171750709-171751089	HepG2	liver:	n/a	n/a
26	CEBPD	chr1:171750187-171750618	HepG2	liver:	n/a	n/a
27	CEBPZ	chr1:171750543-171750947	HepG2	liver:	n/a	n/a
28	CHD1	chr1:171750711-171751262	GM12878	blood:	n/a	n/a
29	CHD1	chr1:171749938-171750475	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr1:171750308-171751024	HepG2	liver:	n/a	n/a
31	CHD2	chr1:171750129-171751317	GM12878	blood:	n/a	n/a
32	CHD2	chr1:171750143-171751235	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:171750278-171751046	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:171750091-171751101	K562	blood:	n/a	n/a
35	CREB1	chr1:171750145-171751149	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr1:171749808-171751375	K562	blood:	n/a	n/a
37	CREB1	chr1:171750296-171750992	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr1:171750039-171751321	GM12878	blood:	n/a	n/a
39	CREB1	chr1:171750234-171751013	A549	lung:	n/a	n/a
40	CREB1	chr1:171750236-171751026	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr1:171750283-171751005	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr1:171750072-171751089	K562	blood:	n/a	n/a
43	CREB1	chr1:171750094-171751166	GM12878	blood:	n/a	n/a
44	CREB1	chr1:171750086-171751240	HepG2	liver:	n/a	n/a
45	CREB1	chr1:171750285-171750956	A549	lung:	n/a	n/a
46	CREB1	chr1:171750081-171751116	HepG2	liver:	n/a	n/a
47	CTCF	chr1:171750300-171750450	GM12865	blood:	n/a	chr1:171750401-171750414
48	CTCF	chr1:171750220-171750370	AG10803	skin:	n/a	n/a
49	CTCF	chr1:171750220-171750370	GM12873	blood:	n/a	n/a
50	CTCF	chr1:171750400-171750550	WERI-Rb-1	eye:	n/a	chr1:171750401-171750414

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171753628-171753678	IMR90	lung:	fetal
2	chr1:171750566-171750616	HRCEpiC	kidney:	n/a
3	chr1:171753628-171753678	IMR90	lung:	fetal
4	chr1:171750566-171750616	HRCEpiC	kidney:	n/a
5	chr1:171753504-171753554	NT2-D1	testis:	n/a
6	chr1:171753628-171753678	ECC-1	luminal epithelium:	n/a
7	chr1:171753504-171753554	NHDF-neo	bronchial:	n/a
8	chr1:171750782-171750832	HCT-116	colon:	n/a
9	chr1:171750797-171750847	ProgFib	skin:	n/a
10	chr1:171753417-171753467	HEK293	kidney:	embryo
11	chr1:171750797-171750847	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:171750547-171750597	ECC-1	luminal epithelium:	n/a
13	chr1:171750693-171750743	AG09309	skin:	n/a
14	chr1:171750281-171750331	H1-hESC	embryonic stem cell:	embryo
15	chr1:171755066-171755116	AoSMC	blood vessel:	n/a
16	chr1:171755066-171755116	HRCEpiC	kidney:	n/a
17	chr1:171751291-171751341	Hepatocyte	liver:	n/a
18	chr1:171750782-171750832	Hela-S3	cervix:	n/a
19	chr1:171750797-171750847	HIPEpiC	eye:	n/a
20	chr1:171750693-171750743	HEK293	kidney:	embryo
21	chr1:171750693-171750743	PFSK-1	brain:	n/a
22	chr1:171750693-171750743	SK-N-SH	brain:	n/a
23	chr1:171753185-171753235	Caco-2	colon:	n/a
24	chr1:171750693-171750743	K562	blood:	n/a
25	chr1:171750281-171750331	NT2-D1	testis:	n/a
26	chr1:171755066-171755116	SK-N-SH_RA	brain:	n/a
27	chr1:171753504-171753554	PrEC	prostate:	n/a
28	chr1:171751291-171751341	HIPEpiC	eye:	n/a
29	chr1:171750797-171750847	AG09319	gingival:	n/a
30	chr1:171755066-171755116	HepG2	liver:	n/a
31	chr1:171753504-171753554	HIPEpiC	eye:	n/a
32	chr1:171753628-171753678	HCM	heart:	n/a
33	chr1:171750547-171750597	AG09309	skin:	n/a
34	chr1:171750501-171750551	AG09309	skin:	n/a
35	chr1:171753628-171753678	AG04449	skin:	fetal
36	chr1:171753185-171753235	GM06990	blood:	n/a
37	chr1:171750782-171750832	SK-N-MC	brain:	n/a
38	chr1:171753185-171753235	BJ	skin:	n/a
39	chr1:171751291-171751341	HL-60	blood:	n/a
40	chr1:171750547-171750597	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:171753628-171753678	HMEC	breast:	n/a
42	chr1:171755066-171755116	Jurkat	blood:	n/a
43	chr1:171753417-171753467	HCT-116	colon:	n/a
44	chr1:171750693-171750743	SAEC	small airway:	n/a
45	chr1:171750547-171750597	GM12878	blood:	n/a
46	chr1:171753185-171753235	SK-N-SH	brain:	n/a
47	chr1:171753185-171753235	AG10803	skin:	n/a
48	chr1:171753417-171753467	GM12891	blood:	n/a
49	chr1:171750547-171750597	HEK293	kidney:	embryo
50	chr1:171753417-171753467	NB4	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
2	chr1:171724145..171725831-chr1:171749285..171750823,2	K562	blood:
3	chr1:171750066..171750854-chr11:94822619..94823499,2	HCT-116	colon:
4	chr1:171754075..171756411-chr1:171764040..171766145,2	MCF-7	breast:
5	chr1:171712949..171715185-chr1:171753608..171756289,2	K562	blood:
6	chr1:171752566..171754106-chr1:171760621..171762669,2	MCF-7	breast:
7	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
8	chr1:171728708..171731158-chr1:171748251..171750478,2	MCF-7	breast:
9	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
10	chr1:171750001..171750811-chr11:93474122..93474719,2	NB4	blood:
11	chr1:171750053..171752040-chr1:171760205..171763597,3	MCF-7	breast:
12	chr1:171710046..171714350-chr1:171748592..171750523,6	K562	blood:
13	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
14	chr1:171749924..171750607-chr10:105211765..105212634,2	HCT-116	colon:
15	chr1:171750745..171751328-chr6:7910543..7911467,2	NB4	blood:
16	chr1:155196799..155197506-chr1:171749732..171750634,2	Hela-S3	cervix:
17	chr1:171750400..171751284-chr9:115512246..115512858,2	Hela-S3	cervix:
18	chr1:171750621..171751192-chr6:44094734..44095532,2	Hela-S3	cervix:
19	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
20	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
21	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
22	chr1:171711288..171712051-chr1:171749296..171750274,2	Hela-S3	cervix:
23	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
24	chr1:171750345..171750984-chr19:56146237..56147133,2	Hela-S3	cervix:
25	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
26	chr1:171738907..171740950-chr1:171747822..171750244,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL13-3	chr1:171750371-171750648	NONHSAT007582

No data

Variant related genes	Relation type
METTL13	TF binding region
METTL13	CpG island
ENSG00000171425	chromatin interactions
ENSG00000138172	chromatin interactions
ENSG00000236741	chromatin interactions
ENSG00000253060	chromatin interactions
ENSG00000232261	chromatin interactions
ENSG00000271459	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000234699	chromatin interactions
ENSG00000117533	chromatin interactions
ENSG00000239264	chromatin interactions
ENSG00000149218	chromatin interactions
ENSG00000180992	chromatin interactions
ENSG00000010165	chromatin interactions
ENSG00000137216	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000213015	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1555101	chr1:171749665-171749666	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567273205	chr1:171749667-171749668	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs141106158	chr1:171749720-171749721	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs150259740	chr1:171749801-171749802	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs1555102	chr1:171749809-171749810	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs531813143	chr1:171749864-171749865	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs199752507	chr1:171749865-171749866	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs56148613	chr1:171749880-171749881	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs12164596	chr1:171749884-171749885	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs538796484	chr1:171749896-171749897	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs557996550	chr1:171749933-171749934	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs139244072	chr1:171749937-171749938	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs540307039	chr1:171749985-171749986	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs572020363	chr1:171749998-171749999	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs386636776	chr1:171749999-171750000	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs376877237	chr1:171750000-171750001	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs547848414	chr1:171750002-171750003	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs2232804	chr1:171750003-171750004	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs2232805	chr1:171750047-171750048	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs187056323	chr1:171750075-171750076	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs2232806	chr1:171750087-171750088	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs2232807	chr1:171750095-171750096	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs111962742	chr1:171750103-171750104	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs545569118	chr1:171750113-171750114	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs61118254	chr1:171750122-171750123	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs2232808	chr1:171750141-171750142	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374120671	chr1:171750159-171750160	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs191449875	chr1:171750172-171750173	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs540857183	chr1:171750173-171750174	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs2232809	chr1:171750181-171750182	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548759338	chr1:171750187-171750188	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs116813752	chr1:171750198-171750199	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs531171612	chr1:171750236-171750237	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs201909232	chr1:171750237-171750238	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs549683932	chr1:171750261-171750262	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs75887135	chr1:171750284-171750285	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs2232810	chr1:171750300-171750301	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs374898995	chr1:171750312-171750313	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs563180425	chr1:171750323-171750324	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs147507415	chr1:171750333-171750334	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs566899157	chr1:171750338-171750339	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs111322048	chr1:171750368-171750369	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs534303863	chr1:171750413-171750414	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
44	rs555863389	chr1:171750425-171750426	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
45	rs574105729	chr1:171750426-171750427	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
46	rs113602057	chr1:171750439-171750440	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
47	rs138419860	chr1:171750441-171750442	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
48	rs578191877	chr1:171750450-171750451	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
49	rs149581771	chr1:171750456-171750457	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
50	rs2232811	chr1:171750471-171750472	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171749000-171749800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:171749000-171749800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:171749000-171750200	Flanking Active TSS	Dnd41	blood
5	chr1:171749200-171749800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:171749200-171749800	Enhancers	Hela-S3	cervix
7	chr1:171749400-171749800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:171749400-171749800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:171749400-171749800	Enhancers	Primary B cells from cord blood	blood
10	chr1:171749400-171749800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:171749400-171749800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:171749400-171749800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:171749400-171749800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:171749400-171749800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:171749400-171749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:171749400-171749800	Enhancers	HepG2	liver
17	chr1:171749400-171749800	Enhancers	NHDF-Ad	bronchial
18	chr1:171749400-171749800	Enhancers	NHEK	skin
19	chr1:171749400-171749800	Enhancers	NHLF	lung
20	chr1:171749400-171750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:171749400-171750000	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr1:171749400-171750200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:171749400-171750200	Flanking Active TSS	K562	blood
24	chr1:171749600-171749800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:171749600-171749800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:171749600-171749800	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:171749600-171749800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:171749600-171749800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:171749600-171749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:171749600-171749800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:171749600-171749800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:171749600-171749800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:171749600-171749800	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:171749600-171749800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:171749600-171749800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:171749600-171749800	Active TSS	Fetal Lung	lung
37	chr1:171749600-171749800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:171749600-171749800	Enhancers	Placenta	Placenta
39	chr1:171749600-171749800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:171749600-171749800	Enhancers	Right Atrium	heart
41	chr1:171749600-171749800	Enhancers	Right Ventricle	heart
42	chr1:171749600-171749800	Enhancers	HMEC	breast
43	chr1:171749600-171749800	Enhancers	HSMM	muscle
44	chr1:171749600-171749800	Enhancers	HUVEC	blood vessel
45	chr1:171749600-171749800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:171749600-171749800	Enhancers	Osteobl	bone
47	chr1:171749600-171750000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:171749600-171750000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:171749600-171750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:171749600-171750000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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