Variant report

Variant	nsv601940
Chromosome Location	chr6:31463963-31481105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:551)
CpG islands
(count:5683)
Chromatin interactive
region (count:50)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31465722-31465982	K562	blood:	n/a	n/a
2	BACH1	chr6:31465477-31465659	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr6:31465521-31465739	HepG2	liver:	n/a	n/a
4	BHLHE40	chr6:31465570-31466076	K562	blood:	n/a	n/a
5	BHLHE40	chr6:31465586-31465724	A549	lung:	n/a	n/a
6	BHLHE40	chr6:31465368-31466094	GM12878	blood:	n/a	n/a
7	BRCA1	chr6:31465589-31465728	GM12878	blood:	n/a	n/a
8	CBX3	chr6:31465272-31466294	K562	blood:	n/a	n/a
9	CCNT2	chr6:31465489-31466233	K562	blood:	n/a	n/a
10	CEBPB	chr6:31464071-31464358	K562	blood:	n/a	chr6:31464199-31464210
11	CEBPB	chr6:31464089-31464308	IMR90	lung:	n/a	chr6:31464199-31464210
12	CEBPB	chr6:31464160-31464214	A549	lung:	n/a	chr6:31464199-31464210
13	CEBPB	chr6:31463987-31464352	K562	blood:	n/a	chr6:31464199-31464210
14	CEBPB	chr6:31464157-31464355	HepG2	liver:	n/a	chr6:31464199-31464210
15	CEBPB	chr6:31470457-31470685	IMR90	lung:	n/a	n/a
16	CEBPB	chr6:31464088-31464301	H1-hESC	embryonic stem cell:	n/a	chr6:31464199-31464210
17	CEBPB	chr6:31465739-31465801	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:31464089-31464261	HepG2	liver:	n/a	chr6:31464199-31464210
19	CEBPB	chr6:31464090-31464316	Hela-S3	cervix:	n/a	chr6:31464199-31464210
20	CEBPB	chr6:31470442-31470668	K562	blood:	n/a	n/a
21	CEBPB	chr6:31465333-31465907	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr6:31470447-31470707	Hela-S3	cervix:	n/a	n/a
23	CHD1	chr6:31465438-31465838	GM12878	blood:	n/a	n/a
24	CHD2	chr6:31465740-31466093	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr6:31465314-31466094	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr6:31465514-31466002	GM12878	blood:	n/a	n/a
27	CHD2	chr6:31465670-31466002	K562	blood:	n/a	n/a
28	CHD2	chr6:31465805-31465817	HepG2	liver:	n/a	n/a
29	CREB1	chr6:31465591-31466234	A549	lung:	n/a	n/a
30	CTCF	chr6:31465480-31465630	GM12874	blood:	n/a	n/a
31	CTCF	chr6:31465660-31465810	GM12868	blood:	n/a	n/a
32	CTCF	chr6:31464760-31464910	GM12865	blood:	n/a	n/a
33	CTCF	chr6:31464710-31464899	GM12878	blood:	n/a	n/a
34	CTCF	chr6:31465020-31465170	GM06990	blood:	n/a	n/a
35	CTCF	chr6:31476180-31476330	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr6:31465300-31465450	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr6:31464741-31464908	GM12892	blood:	n/a	n/a
38	CTCF	chr6:31465580-31465730	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr6:31476120-31476270	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr6:31465660-31465810	BJ	skin:	n/a	n/a
41	CTCF	chr6:31465700-31465850	AG09319	gingival:	n/a	n/a
42	CTCF	chr6:31465820-31465970	GM12873	blood:	n/a	n/a
43	CTCF	chr6:31465660-31465810	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:31464789-31464831	GM13977	blood:	n/a	n/a
45	CTCF	chr6:31479140-31479290	HepG2	liver:	n/a	n/a
46	CTCF	chr6:31464760-31464910	GM12864	blood:	n/a	n/a
47	CTCF	chr6:31464860-31465010	GM12873	blood:	n/a	n/a
48	CTCF	chr6:31464772-31464839	HepG2	liver:	n/a	n/a
49	CTCF	chr6:31464720-31464870	GM12878	blood:	n/a	n/a
50	CTCF	chr6:31479260-31479410	MCF-7	breast:	n/a	chr6:31479303-31479311 chr6:31479304-31479312

(count:5683 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31477847-31477897	GM19239	blood:	n/a
2	chr6:31468816-31468866	HEEpiC	esophagus:	n/a
3	chr6:31466087-31466137	U87	brain:	n/a
4	chr6:31477022-31477072	HEEpiC	esophagus:	n/a
5	chr6:31466174-31466224	AG04450	lung:	fetal
6	chr6:31478830-31478880	HIPEpiC	eye:	n/a
7	chr6:31474262-31474312	AG04450	lung:	fetal
8	chr6:31464699-31464749	HNPCEpiC	eye:	n/a
9	chr6:31478236-31478286	GM12878	blood:	n/a
10	chr6:31476231-31476281	HL-60	blood:	n/a
11	chr6:31477847-31477897	GM19239	blood:	n/a
12	chr6:31468816-31468866	HEEpiC	esophagus:	n/a
13	chr6:31466087-31466137	U87	brain:	n/a
14	chr6:31477022-31477072	HEEpiC	esophagus:	n/a
15	chr6:31466174-31466224	AG04450	lung:	fetal
16	chr6:31478830-31478880	HIPEpiC	eye:	n/a
17	chr6:31474262-31474312	AG04450	lung:	fetal
18	chr6:31464699-31464749	HNPCEpiC	eye:	n/a
19	chr6:31478236-31478286	GM12878	blood:	n/a
20	chr6:31476231-31476281	HL-60	blood:	n/a
21	chr6:31476403-31476453	NH-A	brain:	n/a
22	chr6:31465580-31465630	HCM	heart:	n/a
23	chr6:31465649-31465699	HIPEpiC	eye:	n/a
24	chr6:31475887-31475937	SKMC	muscle:	n/a
25	chr6:31466821-31466871	SK-N-MC	brain:	n/a
26	chr6:31465961-31466011	HEEpiC	esophagus:	n/a
27	chr6:31475512-31475562	A549	lung:	n/a
28	chr6:31466177-31466227	MCF10A-Er-Src	breast:	n/a
29	chr6:31477952-31478002	HCF	heart:	n/a
30	chr6:31465714-31465764	HRPEpiC	eye:	n/a
31	chr6:31475392-31475442	ovcar-3	ovarian:	n/a
32	chr6:31477022-31477072	HRCEpiC	kidney:	n/a
33	chr6:31475203-31475253	MCF-7	breast:	n/a
34	chr6:31473264-31473314	ECC-1	luminal epithelium:	n/a
35	chr6:31465556-31465606	Hepatocyte	liver:	n/a
36	chr6:31465580-31465630	GM12878	blood:	n/a
37	chr6:31474240-31474290	SK-N-MC	brain:	n/a
38	chr6:31476403-31476453	AoSMC	blood vessel:	n/a
39	chr6:31478830-31478880	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:31475887-31475937	MCF-7	breast:	n/a
41	chr6:31466722-31466772	SKMC	muscle:	n/a
42	chr6:31465898-31465948	HMEC	breast:	n/a
43	chr6:31465961-31466011	Caco-2	colon:	n/a
44	chr6:31466177-31466227	HNPCEpiC	eye:	n/a
45	chr6:31465582-31465632	HAEpiC	amniotic membrane:	n/a
46	chr6:31465720-31465770	SAEC	small airway:	n/a
47	chr6:31465901-31465951	BJ	skin:	n/a
48	chr6:31465556-31465606	HL-60	blood:	n/a
49	chr6:31475887-31475937	CMK	blood:	n/a
50	chr6:31465898-31465948	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
2	chr6:31476583..31479406-chr6:31486934..31488672,2	MCF-7	breast:
3	chr6:31476120..31478773-chr6:31484107..31486968,2	K562	blood:
4	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
5	chr6:31475852..31477407-chr6:31500638..31502211,2	K562	blood:
6	chr6:31462191..31465976-chr6:31584426..31588689,4	K562	blood:
7	chr6:31460486..31468205-chr6:31503942..31512721,23	K562	blood:
8	chr6:31464742..31467126-chr6:31475926..31478030,2	MCF-7	breast:
9	chr6:31371228..31373084-chr6:31465857..31468794,2	K562	blood:
10	chr6:31463303..31465758-chr6:31589334..31591958,3	K562	blood:
11	chr6:31475346..31477291-chr6:31496325..31498693,2	K562	blood:
12	chr6:31465192..31467253-chr6:31513874..31515853,2	K562	blood:
13	chr6:31465865..31468194-chr6:31588116..31590521,2	K562	blood:
14	chr6:31461526..31464326-chr6:31496464..31498692,2	K562	blood:
15	chr6:31462227..31464927-chr6:31513555..31516059,3	MCF-7	breast:
16	chr6:31462039..31463799-chr6:31476341..31479214,2	K562	blood:
17	chr6:31461866..31464235-chr6:31513189..31515982,2	K562	blood:
18	chr6:31469893..31472670-chr6:31507634..31510458,2	K562	blood:
19	chr6:31464473..31467635-chr6:31497399..31499705,3	K562	blood:
20	chr6:31474674..31479009-chr6:31499969..31503821,5	K562	blood:
21	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
22	chr6:31459804..31465340-chr6:31474468..31477294,4	K562	blood:
23	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
24	chr6:31472617..31475122-chr6:31479324..31482046,2	K562	blood:
25	chr6:31365846..31369030-chr6:31460300..31464467,7	K562	blood:
26	chr6:31365716..31368807-chr6:31460300..31464467,6	K562	blood:
27	chr6:31164763..31166450-chr6:31463766..31465501,2	K562	blood:
28	chr6:31480216..31481923-chr6:31482906..31485478,2	K562	blood:
29	chr6:31479768..31481286-chr6:31482878..31485599,2	MCF-7	breast:
30	chr6:31463965..31465758-chr6:31589334..31591777,2	K562	blood:
31	chr6:31471170..31473620-chr6:31507634..31510335,2	K562	blood:
32	chr6:31477252..31479047-chr6:31492557..31494938,2	K562	blood:
33	chr6:31478866..31481420-chr6:31494881..31496533,2	MCF-7	breast:
34	chr6:31465192..31467276-chr6:31514353..31517870,3	K562	blood:
35	chr6:31464396..31467286-chr6:31513352..31515783,2	MCF-7	breast:
36	chr6:31465504..31467038-chr6:31547558..31550219,2	K562	blood:
37	chr6:31472930..31475358-chr6:31476067..31478432,2	K562	blood:
38	chr6:31371212..31373012-chr6:31465963..31468535,2	MCF-7	breast:
39	chr6:31465292..31466331-chr6:31508544..31510586,5	MCF-7	breast:
40	chr6:31475151..31478012-chr6:31479358..31484127,6	K562	blood:
41	chr6:31465872..31468233-chr6:31483089..31485980,2	K562	blood:
42	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
43	chr6:29718134..29720156-chr6:31462731..31465532,2	MCF-7	breast:
44	chr6:31477608..31482305-chr6:31507294..31511382,6	MCF-7	breast:
45	chr6:31467244..31469846-chr6:31506676..31510061,3	MCF-7	breast:
46	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
47	chr6:31479655..31481792-chr6:31482247..31485242,2	K562	blood:
48	chr6:31462975..31464930-chr6:31587251..31589208,2	MCF-7	breast:
49	chr6:31462628..31467072-chr6:31508179..31511597,8	MCF-7	breast:
50	chr6:31463812..31467472-chr6:31476323..31480188,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G2-DDX39B-2	chr6:31470089-31470973	l_3166_chr6:31470088-31474400_lung
2	lnc-ATP6V1G2-DDX39B-2	chr6:31473815-31474714	l_3166_chr6:31470088-31474400_lung

No data

Variant related genes	Relation type
ENSG00000201680	TF binding region
ENSG00000256851	TF binding region
MICB	TF binding region
ENSG00000201680	CpG island
ENSG00000256851	CpG island
MICB	CpG island
ENSG00000198563	chromatin interactions
ENSG00000204498	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000272236	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000200816	chromatin interactions
ENSG00000204516	chromatin interactions
ENSG00000225499	chromatin interactions
ENSG00000227507	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000219797	chromatin interactions
ENSG00000206337	chromatin interactions
ENSG00000204511	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000204520	chromatin interactions
ENSG00000199290	chromatin interactions
ENSG00000201785	chromatin interactions
ENSG00000201680	chromatin interactions
ENSG00000213760	chromatin interactions
ENSG00000256851	chromatin interactions
ENSG00000235821	chromatin interactions
ENSG00000254870	chromatin interactions

Extended variants
information (count: 762 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2534678	chr6:31463963-31463964	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567174027	chr6:31463968-31463969	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs527954045	chr6:31463977-31463978	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs9281508	chr6:31463985-31463986	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs2534677	chr6:31464026-31464027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2534676	chr6:31464029-31464030	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535222047	chr6:31464049-31464050	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs6916394	chr6:31464050-31464051	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530305415	chr6:31464080-31464081	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs41293860	chr6:31464091-31464092	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539636973	chr6:31464103-31464104	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs56003943	chr6:31464142-31464143	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs557641417	chr6:31464148-31464149	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs3034154	chr6:31464159-31464160	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs113013684	chr6:31464188-31464189	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs9267366	chr6:31464229-31464230	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9267367	chr6:31464289-31464290	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372014475	chr6:31464292-31464293	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs9267368	chr6:31464321-31464322	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6916960	chr6:31464325-31464326	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533238868	chr6:31464338-31464339	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs182651676	chr6:31464351-31464352	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs2844501	chr6:31464365-31464366	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528031176	chr6:31464384-31464385	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs549265335	chr6:31464391-31464392	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs567575004	chr6:31464432-31464433	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs558738188	chr6:31464438-31464439	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs9469017	chr6:31464439-31464440	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574463515	chr6:31464452-31464453	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs550127317	chr6:31464512-31464513	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs9267370	chr6:31464517-31464518	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539138700	chr6:31464518-31464519	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs193223477	chr6:31464563-31464564	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs3095234	chr6:31464571-31464572	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs533942083	chr6:31464593-31464594	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs376166796	chr6:31464597-31464598	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs183120792	chr6:31464635-31464636	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs573946972	chr6:31464660-31464661	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs372039924	chr6:31464707-31464708	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs545803756	chr6:31464737-31464738	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs3828903	chr6:31464739-31464740	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs375222529	chr6:31464741-31464742	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs2534675	chr6:31464798-31464799	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs3828904	chr6:31464804-31464805	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs145333893	chr6:31464818-31464819	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs374238637	chr6:31464836-31464837	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs3828905	chr6:31464902-31464903	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs3828906	chr6:31464918-31464919	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs386699225	chr6:31464930-31464931	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs3828908	chr6:31464932-31464933	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	21346763	CNVD
Nasopharyngeal cancer	20548289	CNVD
Nasopharyngeal cancer	20551993	CNVD
Type 2 diabetes	21526130	CNVD
Prostate cancer	22341455	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31459400-31466600	Active TSS	GM12878-XiMat	blood
2	chr6:31461200-31465000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:31461400-31464600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:31461600-31464600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:31462800-31464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:31462800-31464200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr6:31462800-31464200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:31462800-31465400	Weak transcription	Gastric	stomach
9	chr6:31462800-31465400	Weak transcription	Ovary	ovary
10	chr6:31462800-31466800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr6:31463000-31464000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:31463000-31464000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr6:31463000-31464000	Flanking Active TSS	Dnd41	blood
14	chr6:31463000-31464000	Flanking Active TSS	HUVEC	blood vessel
15	chr6:31463000-31464000	Flanking Active TSS	NHEK	skin
16	chr6:31463000-31464000	Flanking Active TSS	Osteobl	bone
17	chr6:31463000-31464800	Weak transcription	Aorta	Aorta
18	chr6:31463000-31464800	Weak transcription	Esophagus	oesophagus
19	chr6:31463000-31464800	Weak transcription	Pancreas	Pancrea
20	chr6:31463000-31465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:31463000-31465000	Weak transcription	Right Ventricle	heart
22	chr6:31463000-31465400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr6:31463200-31464000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:31463200-31464000	Flanking Active TSS	HMEC	breast
25	chr6:31463200-31464600	Weak transcription	A549	lung
26	chr6:31463200-31465000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:31463200-31465200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:31463200-31465200	Weak transcription	Left Ventricle	heart
29	chr6:31463200-31465200	Enhancers	HSMM	muscle
30	chr6:31463200-31465400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:31463200-31465400	Weak transcription	Lung	lung
32	chr6:31463200-31465400	Enhancers	Spleen	Spleen
33	chr6:31463200-31465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:31463200-31465800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:31463400-31464000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:31463400-31464000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:31463400-31464000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:31463400-31464600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:31463400-31464600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:31463400-31464800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:31463400-31464800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:31463400-31464800	Weak transcription	Liver	Liver
43	chr6:31463400-31464800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:31463400-31464800	Enhancers	Thymus	Thymus
45	chr6:31463400-31465000	Enhancers	Primary T cells from cord blood	blood
46	chr6:31463400-31465000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:31463400-31465000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:31463400-31465000	Weak transcription	Colonic Mucosa	Colon
49	chr6:31463400-31465200	Weak transcription	HSMMtube	muscle
50	chr6:31463600-31464000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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