Variant report

Variant	esv1833550
Chromosome Location	chr6:31460220-31474688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1068)
CpG islands
(count:5253)
Chromatin interactive
region (count:58)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1068 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31461644-31461844	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:31461668-31461788	K562	blood:	n/a	n/a
3	ARID3A	chr6:31465722-31465982	K562	blood:	n/a	n/a
4	ATF1	chr6:31461574-31461862	K562	blood:	n/a	n/a
5	BACH1	chr6:31465477-31465659	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:31461976-31462261	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr6:31461631-31461827	GM12878	blood:	n/a	n/a
8	BCLAF1	chr6:31461456-31461937	GM12878	blood:	n/a	n/a
9	BCLAF1	chr6:31462354-31462696	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:31465368-31466094	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:31461660-31461764	K562	blood:	n/a	n/a
12	BHLHE40	chr6:31461591-31461803	HepG2	liver:	n/a	n/a
13	BHLHE40	chr6:31465586-31465724	A549	lung:	n/a	n/a
14	BHLHE40	chr6:31461588-31461787	GM12878	blood:	n/a	n/a
15	BHLHE40	chr6:31465521-31465739	HepG2	liver:	n/a	n/a
16	BHLHE40	chr6:31465570-31466076	K562	blood:	n/a	n/a
17	BHLHE40	chr6:31462613-31462825	GM12878	blood:	n/a	n/a
18	BRCA1	chr6:31461666-31461793	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr6:31465589-31465728	GM12878	blood:	n/a	n/a
20	BRCA1	chr6:31461543-31461805	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr6:31462911-31462931	GM12878	blood:	n/a	n/a
22	CBX3	chr6:31462512-31463057	K562	blood:	n/a	n/a
23	CBX3	chr6:31461468-31462341	K562	blood:	n/a	chr6:31461534-31461545
24	CBX3	chr6:31465272-31466294	K562	blood:	n/a	n/a
25	CCNT2	chr6:31461596-31462186	K562	blood:	n/a	n/a
26	CCNT2	chr6:31465489-31466233	K562	blood:	n/a	n/a
27	CEBPB	chr6:31470457-31470685	IMR90	lung:	n/a	n/a
28	CEBPB	chr6:31470442-31470668	K562	blood:	n/a	n/a
29	CEBPB	chr6:31463987-31464352	K562	blood:	n/a	chr6:31464199-31464210
30	CEBPB	chr6:31464157-31464355	HepG2	liver:	n/a	chr6:31464199-31464210
31	CEBPB	chr6:31470447-31470707	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr6:31461590-31461874	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:31465333-31465907	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr6:31464088-31464301	H1-hESC	embryonic stem cell:	n/a	chr6:31464199-31464210
35	CEBPB	chr6:31464160-31464214	A549	lung:	n/a	chr6:31464199-31464210
36	CEBPB	chr6:31464090-31464316	Hela-S3	cervix:	n/a	chr6:31464199-31464210
37	CEBPB	chr6:31465739-31465801	HepG2	liver:	n/a	n/a
38	CEBPB	chr6:31464089-31464308	IMR90	lung:	n/a	chr6:31464199-31464210
39	CEBPB	chr6:31464089-31464261	HepG2	liver:	n/a	chr6:31464199-31464210
40	CEBPB	chr6:31464071-31464358	K562	blood:	n/a	chr6:31464199-31464210
41	CHD1	chr6:31461747-31461929	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr6:31461613-31462207	GM12878	blood:	n/a	n/a
43	CHD1	chr6:31465438-31465838	GM12878	blood:	n/a	n/a
44	CHD2	chr6:31465514-31466002	GM12878	blood:	n/a	n/a
45	CHD2	chr6:31461589-31462230	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr6:31462801-31462938	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr6:31465670-31466002	K562	blood:	n/a	n/a
48	CHD2	chr6:31465740-31466093	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr6:31463614-31463623	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr6:31462761-31463074	GM12878	blood:	n/a	n/a

(count:5253 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31474240-31474290	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:31468957-31469007	NT2-D1	testis:	n/a
3	chr6:31468622-31468672	GM06990	blood:	n/a
4	chr6:31466087-31466137	GM12878	blood:	n/a
5	chr6:31466722-31466772	ovcar-3	ovarian:	n/a
6	chr6:31473264-31473314	SK-N-MC	brain:	n/a
7	chr6:31473513-31473563	PFSK-1	brain:	n/a
8	chr6:31474240-31474290	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:31468957-31469007	NT2-D1	testis:	n/a
10	chr6:31468622-31468672	GM06990	blood:	n/a
11	chr6:31466087-31466137	GM12878	blood:	n/a
12	chr6:31466722-31466772	ovcar-3	ovarian:	n/a
13	chr6:31473264-31473314	SK-N-MC	brain:	n/a
14	chr6:31473513-31473563	PFSK-1	brain:	n/a
15	chr6:31465603-31465653	U87	brain:	n/a
16	chr6:31461821-31461871	PANC-1	pancreas:	n/a
17	chr6:31474043-31474093	MCF10A-Er-Src	breast:	n/a
18	chr6:31461748-31461798	NHDF-neo	bronchial:	n/a
19	chr6:31466174-31466224	SKMC	muscle:	n/a
20	chr6:31462038-31462088	HEEpiC	esophagus:	n/a
21	chr6:31465075-31465125	A549	lung:	n/a
22	chr6:31465876-31465926	H1-hESC	embryonic stem cell:	embryo
23	chr6:31468925-31468975	HRPEpiC	eye:	n/a
24	chr6:31474137-31474187	HCM	heart:	n/a
25	chr6:31468599-31468649	AG10803	skin:	n/a
26	chr6:31466003-31466053	H1-hESC	embryonic stem cell:	embryo
27	chr6:31465461-31465511	SAEC	small airway:	n/a
28	chr6:31464955-31465005	T-47D	breast:	n/a
29	chr6:31474137-31474187	NH-A	brain:	n/a
30	chr6:31468098-31468148	SK-N-MC	brain:	n/a
31	chr6:31466798-31466848	HCF	heart:	n/a
32	chr6:31468816-31468866	HMEC	breast:	n/a
33	chr6:31462150-31462200	AG10803	skin:	n/a
34	chr6:31462183-31462233	GM12891	blood:	n/a
35	chr6:31465649-31465699	HRPEpiC	eye:	n/a
36	chr6:31465898-31465948	HepG2	liver:	n/a
37	chr6:31461728-31461778	HCT-116	colon:	n/a
38	chr6:31466722-31466772	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:31461853-31461903	U87	brain:	n/a
40	chr6:31473461-31473511	NHBE	bronchial:	n/a
41	chr6:31468816-31468866	T-47D	breast:	n/a
42	chr6:31462049-31462099	H1-hESC	embryonic stem cell:	embryo
43	chr6:31466821-31466871	ECC-1	luminal epithelium:	n/a
44	chr6:31468925-31468975	BJ	skin:	n/a
45	chr6:31466798-31466848	LNCaP	prostate:	n/a
46	chr6:31462081-31462131	HCT-116	colon:	n/a
47	chr6:31461821-31461871	K562	blood:	n/a
48	chr6:31471658-31471708	T-47D	breast:	n/a
49	chr6:31465865-31465915	AG09319	gingival:	n/a
50	chr6:31465603-31465653	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:31461360..31462200-chr6:31564947..31565457,2	K562	blood:
2	chr6:29944580..29945510-chr6:31461603..31462125,3	HCT-116	colon:
3	chr6:31459984..31462302-chr6:31464597..31467280,2	MCF-7	breast:
4	chr6:31461608..31462222-chr6:31514557..31515072,2	K562	blood:
5	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
6	chr6:31462975..31464930-chr6:31587251..31589208,2	MCF-7	breast:
7	chr6:31459804..31465340-chr6:31474468..31477294,4	K562	blood:
8	chr6:31164763..31166450-chr6:31463766..31465501,2	K562	blood:
9	chr6:31465192..31467276-chr6:31514353..31517870,3	K562	blood:
10	chr6:31465192..31467253-chr6:31513874..31515853,2	K562	blood:
11	chr6:31465872..31468233-chr6:31483089..31485980,2	K562	blood:
12	chr6:31459784..31461432-chr6:31485097..31486875,2	K562	blood:
13	chr6:31464396..31467286-chr6:31513352..31515783,2	MCF-7	breast:
14	chr6:31461526..31464326-chr6:31496464..31498692,2	K562	blood:
15	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
16	chr6:31469893..31472670-chr6:31507634..31510458,2	K562	blood:
17	chr6:31467244..31469846-chr6:31506676..31510061,3	MCF-7	breast:
18	chr6:31459680..31461470-chr6:31496215..31498262,2	MCF-7	breast:
19	chr6:31459935..31461853-chr6:31464053..31467261,4	K562	blood:
20	chr6:31460341..31462076-chr6:31501405..31503283,2	K562	blood:
21	chr6:31461622..31462526-chr6:31514129..31514895,2	MCF-7	breast:
22	chr6:31461866..31464235-chr6:31513189..31515982,2	K562	blood:
23	chr6:31164998..31165548-chr6:31461463..31462414,2	Hela-S3	cervix:
24	chr6:31459795..31462964-chr6:31499493..31502905,3	K562	blood:
25	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
26	chr6:31371212..31373012-chr6:31465963..31468535,2	MCF-7	breast:
27	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
28	chr6:31459629..31460383-chr6:31566089..31567042,2	MCF-7	breast:
29	chr6:31465504..31467038-chr6:31547558..31550219,2	K562	blood:
30	chr6:31365716..31368807-chr6:31460300..31464467,6	K562	blood:
31	chr6:31461691..31462229-chr6:31496014..31496754,2	MCF-7	breast:
32	chr6:29718134..29720156-chr6:31462731..31465532,2	MCF-7	breast:
33	chr6:31461211..31462110-chr6:31566059..31566733,2	MCF-7	breast:
34	chr6:31460948..31461720-chr6:31514497..31515098,2	MCF-7	breast:
35	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
36	chr6:31463965..31465758-chr6:31589334..31591777,2	K562	blood:
37	chr6:31471170..31473620-chr6:31507634..31510335,2	K562	blood:
38	chr14:105864280..105865037-chr6:31462889..31463701,2	Hela-S3	cervix:
39	chr6:31465292..31466331-chr6:31508544..31510586,5	MCF-7	breast:
40	chr6:31463303..31465758-chr6:31589334..31591958,3	K562	blood:
41	chr6:29945013..29945528-chr6:31461611..31462151,2	MCF-7	breast:
42	chr6:31461147..31462941-chr6:31618531..31620077,2	K562	blood:
43	chr6:31464473..31467635-chr6:31497399..31499705,3	K562	blood:
44	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
45	chr6:31462191..31465976-chr6:31584426..31588689,4	K562	blood:
46	chr6:31458751..31460281-chr6:31589916..31591938,2	K562	blood:
47	chr6:31457500..31459013-chr6:31460280..31462623,2	K562	blood:
48	chr6:31367361..31367866-chr6:31461272..31461916,4	MCF-7	breast:
49	chr6:31474674..31479009-chr6:31499969..31503821,5	K562	blood:
50	chr6:31462227..31464927-chr6:31513555..31516059,3	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000201680	TF binding region
MICB	TF binding region
ENSG00000201680	CpG island
MICB	CpG island
ENSG00000201785	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000225499	chromatin interactions
ENSG00000204520	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000227507	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000256851	chromatin interactions
ENSG00000199290	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000200816	chromatin interactions
ENSG00000206337	chromatin interactions
ENSG00000204625	chromatin interactions
ENSG00000272236	chromatin interactions
ENSG00000254870	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000201680	chromatin interactions
ENSG00000204498	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000204511	chromatin interactions
ENSG00000213760	chromatin interactions
ENSG00000235821	chromatin interactions
ENSG00000204516	chromatin interactions
ENSG00000204469	chromatin interactions

Extended variants
information (count: 654 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2395035	chr6:31460220-31460221	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542296486	chr6:31460243-31460244	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs2395036	chr6:31460284-31460285	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370010752	chr6:31460295-31460296	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs2395037	chr6:31460300-31460301	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374554865	chr6:31460305-31460306	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs189134794	chr6:31460359-31460360	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs41288932	chr6:31460414-31460415	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs2395038	chr6:31460451-31460452	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs572528616	chr6:31460473-31460474	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs2395039	chr6:31460518-31460519	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561569837	chr6:31460562-31460563	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs370579046	chr6:31460603-31460604	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs142652754	chr6:31460686-31460687	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs182589209	chr6:31460779-31460780	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs537460700	chr6:31460848-31460849	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs532639791	chr6:31460870-31460871	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs146896903	chr6:31460871-31460872	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs527691805	chr6:31460881-31460882	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs187188335	chr6:31460895-31460896	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs113381230	chr6:31460916-31460917	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs149467369	chr6:31460936-31460937	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs3130921	chr6:31460943-31460944	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs538051171	chr6:31461008-31461009	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs12195665	chr6:31461043-31461044	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs12202667	chr6:31461053-31461054	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs3130922	chr6:31461089-31461090	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs2904597	chr6:31461132-31461133	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2904596	chr6:31461151-31461152	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs536799684	chr6:31461157-31461158	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs116826177	chr6:31461160-31461161	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs571088237	chr6:31461188-31461189	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs576094221	chr6:31461257-31461258	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs543631803	chr6:31461263-31461264	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs565115985	chr6:31461291-31461292	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs577153158	chr6:31461301-31461302	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs192119127	chr6:31461306-31461307	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs115881764	chr6:31461309-31461310	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs2507971	chr6:31461372-31461373	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs146040294	chr6:31461381-31461382	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs372175088	chr6:31461442-31461443	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs9267325	chr6:31461492-31461493	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs2516413	chr6:31461509-31461510	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs201954579	chr6:31461553-31461554	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs3094006	chr6:31461558-31461559	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs2534687	chr6:31461608-31461609	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs2252937	chr6:31461613-31461614	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs578211436	chr6:31461634-31461635	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs2534686	chr6:31461667-31461668	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530943249	chr6:31461668-31461669	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	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:1142 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31438200-31461600	Weak transcription	Small Intestine	intestine
2	chr6:31443000-31461600	Weak transcription	Right Atrium	heart
3	chr6:31446200-31461600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:31453600-31461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:31455800-31461400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:31456000-31461600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:31456200-31461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:31457200-31461600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:31458000-31461400	Weak transcription	Colonic Mucosa	Colon
10	chr6:31458200-31461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:31458400-31461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:31458600-31461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:31458800-31461000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:31458800-31461200	Weak transcription	Thymus	Thymus
15	chr6:31458800-31461400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:31458800-31461600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:31458800-31461600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:31459000-31461400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:31459000-31461600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:31459000-31461600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:31459200-31461600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:31459200-31461600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:31459400-31460600	Enhancers	HMEC	breast
24	chr6:31459400-31461200	Enhancers	Fetal Thymus	thymus
25	chr6:31459400-31461200	Enhancers	HUVEC	blood vessel
26	chr6:31459400-31461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:31459400-31461400	Enhancers	Primary B cells from cord blood	blood
28	chr6:31459400-31461400	Enhancers	Primary T cells from cord blood	blood
29	chr6:31459400-31461400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:31459400-31461600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:31459400-31461600	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:31459400-31461600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:31459400-31461600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:31459400-31461600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:31459400-31466600	Active TSS	GM12878-XiMat	blood
36	chr6:31459600-31460400	Enhancers	NHEK	skin
37	chr6:31459600-31460600	Flanking Active TSS	Dnd41	blood
38	chr6:31459600-31461400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr6:31459600-31461400	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:31459800-31461400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:31459800-31461600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:31459800-31461600	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:31460000-31461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:31460000-31461600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:31460200-31460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:31460200-31460400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:31460200-31461000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr6:31460200-31461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:31460200-31461000	Enhancers	Hela-S3	cervix
50	chr6:31460200-31461200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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