Variant report

Variant	nsv602953
Chromosome Location	chr6:36953091-36954082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:36953882-36954358	K562	blood:	n/a	n/a
2	ARID3A	chr6:36953849-36954297	HepG2	liver:	n/a	n/a
3	ATF1	chr6:36953805-36954407	K562	blood:	n/a	n/a
4	ATF2	chr6:36953752-36954392	GM12878	blood:	n/a	n/a
5	ATF2	chr6:36952366-36953109	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr6:36953709-36954310	HepG2	liver:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954234-36954243
7	ATF3	chr6:36953729-36954147	H1-hESC	embryonic stem cell:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
8	ATF3	chr6:36953708-36954212	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
9	ATF3	chr6:36953708-36954161	H1-hESC	embryonic stem cell:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
10	ATF3	chr6:36953764-36954186	HepG2	liver:	n/a	chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954012-36954021
11	ATF3	chr6:36953803-36954026	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
12	ATF3	chr6:36953783-36954204	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
13	ATF3	chr6:36953716-36954157	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
14	ATF3	chr6:36953834-36954138	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
15	BACH1	chr6:36953937-36954469	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCLAF1	chr6:36953567-36954167	GM12878	blood:	n/a	chr6:36954128-36954141 chr6:36954152-36954165 chr6:36954016-36954029
17	BCLAF1	chr6:36953697-36954586	K562	blood:	n/a	chr6:36954128-36954141 chr6:36954177-36954185 chr6:36954182-36954195 chr6:36954152-36954165 chr6:36954188-36954201 chr6:36954016-36954029
18	BHLHE40	chr6:36952725-36953145	GM12878	blood:	n/a	n/a
19	BHLHE40	chr6:36953726-36954528	GM12878	blood:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
20	BHLHE40	chr6:36953805-36954235	A549	lung:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
21	BHLHE40	chr6:36953594-36955050	HepG2	liver:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
22	BHLHE40	chr6:36953810-36954036	HepG2	liver:	n/a	chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
23	BHLHE40	chr6:36953686-36955044	K562	blood:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
24	BRCA1	chr6:36953873-36954230	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr6:36953847-36954512	HepG2	liver:	n/a	n/a
26	BRCA1	chr6:36953874-36954406	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:36953704-36954301	GM12878	blood:	n/a	n/a
28	CBX3	chr6:36953534-36955213	K562	blood:	n/a	n/a
29	CCNT2	chr6:36953629-36954539	K562	blood:	n/a	chr6:36954234-36954243 chr6:36954419-36954428 chr6:36954018-36954027 chr6:36954012-36954021
30	CEBPB	chr6:36954044-36954119	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr6:36953760-36954149	HepG2	liver:	n/a	n/a
32	CEBPD	chr6:36953658-36954552	HepG2	liver:	n/a	n/a
33	CEBPD	chr6:36953587-36954216	K562	blood:	n/a	n/a
34	CHD1	chr6:36952864-36953341	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr6:36953608-36954514	H1-hESC	embryonic stem cell:	n/a	chr6:36954334-36954344
36	CHD1	chr6:36952714-36953195	GM12878	blood:	n/a	chr6:36952852-36952862
37	CHD1	chr6:36951658-36955228	IMR90	lung:	n/a	chr6:36953547-36953557 chr6:36952852-36952862 chr6:36954334-36954344
38	CHD1	chr6:36953627-36954579	GM12878	blood:	n/a	chr6:36954334-36954344
39	CHD2	chr6:36952476-36953416	Hela-S3	cervix:	n/a	chr6:36952852-36952862
40	CHD2	chr6:36952644-36953339	H1-hESC	embryonic stem cell:	n/a	chr6:36952852-36952862
41	CHD2	chr6:36952644-36953317	K562	blood:	n/a	chr6:36952852-36952862
42	CHD2	chr6:36953731-36954539	GM12878	blood:	n/a	chr6:36954334-36954344
43	CHD2	chr6:36953748-36954304	HepG2	liver:	n/a	n/a
44	CHD2	chr6:36953917-36954196	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr6:36953663-36954312	K562	blood:	n/a	n/a
46	CHD2	chr6:36952603-36953271	GM12878	blood:	n/a	chr6:36952852-36952862
47	CHD2	chr6:36953756-36954588	Hela-S3	cervix:	n/a	chr6:36954334-36954344
48	CREB1	chr6:36953587-36954814	HepG2	liver:	n/a	n/a
49	CREB1	chr6:36953593-36954617	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr6:36953524-36954568	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36953694-36953744	HRCEpiC	kidney:	n/a
2	chr6:36953694-36953744	HRCEpiC	kidney:	n/a
3	chr6:36953962-36954012	SKMC	muscle:	n/a
4	chr6:36953962-36954012	MCF-7	breast:	n/a
5	chr6:36953962-36954012	SK-N-MC	brain:	n/a
6	chr6:36953694-36953744	HL-60	blood:	n/a
7	chr6:36953694-36953744	ovcar-3	ovarian:	n/a
8	chr6:36953962-36954012	HCT-116	colon:	n/a
9	chr6:36953962-36954012	SAEC	small airway:	n/a
10	chr6:36953962-36954012	HCF	heart:	n/a
11	chr6:36953694-36953744	AoSMC	blood vessel:	n/a
12	chr6:36953694-36953744	NB4	blood:	n/a
13	chr6:36953694-36953744	HRPEpiC	eye:	n/a
14	chr6:36953694-36953744	CMK	blood:	n/a
15	chr6:36953694-36953744	GM12878	blood:	n/a
16	chr6:36953694-36953744	IMR90	lung:	fetal
17	chr6:36953962-36954012	CMK	blood:	n/a
18	chr6:36953962-36954012	HRCEpiC	kidney:	n/a
19	chr6:36953694-36953744	HepG2	liver:	n/a
20	chr6:36953694-36953744	LNCaP	prostate:	n/a
21	chr6:36953694-36953744	NT2-D1	testis:	n/a
22	chr6:36953962-36954012	HEEpiC	esophagus:	n/a
23	chr6:36953694-36953744	Hela-S3	cervix:	n/a
24	chr6:36953962-36954012	GM06990	blood:	n/a
25	chr6:36953694-36953744	NHDF-neo	bronchial:	n/a
26	chr6:36953962-36954012	Hepatocyte	liver:	n/a
27	chr6:36953694-36953744	HAEpiC	amniotic membrane:	n/a
28	chr6:36953962-36954012	AG09319	gingival:	n/a
29	chr6:36953694-36953744	A549	lung:	n/a
30	chr6:36953694-36953744	HCT-116	colon:	n/a
31	chr6:36953694-36953744	PrEC	prostate:	n/a
32	chr6:36953962-36954012	A549	lung:	n/a
33	chr6:36953694-36953744	HNPCEpiC	eye:	n/a
34	chr6:36953694-36953744	ProgFib	skin:	n/a
35	chr6:36953962-36954012	ProgFib	skin:	n/a
36	chr6:36953694-36953744	SAEC	small airway:	n/a
37	chr6:36953962-36954012	Jurkat	blood:	n/a
38	chr6:36953962-36954012	NHDF-neo	bronchial:	n/a
39	chr6:36953962-36954012	BJ	skin:	n/a
40	chr6:36953962-36954012	HRPEpiC	eye:	n/a
41	chr6:36953962-36954012	AG04449	skin:	fetal
42	chr6:36953962-36954012	RPTEC	kidney:	n/a
43	chr6:36953694-36953744	HEEpiC	esophagus:	n/a
44	chr6:36953694-36953744	HCF	heart:	n/a
45	chr6:36953694-36953744	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:36953694-36953744	HIPEpiC	eye:	n/a
47	chr6:36953962-36954012	ovcar-3	ovarian:	n/a
48	chr6:36953694-36953744	MCF10A-Er-Src	breast:	n/a
49	chr6:36953962-36954012	ECC-1	luminal epithelium:	n/a
50	chr6:36953962-36954012	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
2	chr4:15003883..15004454-chr6:36953903..36954495,2	Hela-S3	cervix:
3	chr6:36911927..36913902-chr6:36952339..36954357,2	MCF-7	breast:
4	chr6:36950922..36953739-chr6:37176914..37178749,2	MCF-7	breast:
5	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:
6	chr17:7760801..7761678-chr6:36953555..36954417,2	Hela-S3	cervix:
7	chr6:36561584..36563964-chr6:36951421..36953213,2	MCF-7	breast:
8	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
9	chr6:36953605..36955180-chr6:37399250..37401093,2	K562	blood:
10	chr12:65996353..65997155-chr6:36953845..36954457,2	HCT-116	colon:
11	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:
12	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
13	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
14	chr6:36953981..36954715-chr9:94185943..94186578,2	Hela-S3	cervix:
15	chr6:36952431..36954730-chr6:36980411..36983158,3	MCF-7	breast:
16	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
17	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
18	chr22:38203892..38204538-chr6:36953541..36954473,2	Hela-S3	cervix:
19	chr1:181057607..181058228-chr6:36953385..36954212,2	NB4	blood:
20	chr12:110887592..110888194-chr6:36953724..36954482,2	NB4	blood:
21	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
22	chr10:74033541..74034167-chr6:36953934..36954557,2	Hela-S3	cervix:
23	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
24	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:

Variant related genes	Relation type
MTCH1	TF binding region
MTCH1	CpG island
ENSG00000183011	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000182224	chromatin interactions
ENSG00000137200	chromatin interactions
ENSG00000256268	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000137193	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000124772	chromatin interactions
ENSG00000164530	chromatin interactions
ENSG00000100116	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000137168	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000111229	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000232598	chromatin interactions
ENSG00000137449	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544902690	chr6:36953094-36953095	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs145260597	chr6:36953128-36953129	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs183123834	chr6:36953137-36953138	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs545798166	chr6:36953139-36953140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs186024731	chr6:36953146-36953147	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs527993310	chr6:36953208-36953209	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs114271396	chr6:36953230-36953231	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs12213465	chr6:36953267-36953268	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552773502	chr6:36953272-36953273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs550440089	chr6:36953313-36953314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs570435564	chr6:36953341-36953342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs137915035	chr6:36953342-36953343	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs3798475	chr6:36953391-36953392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369200040	chr6:36953416-36953417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs114527620	chr6:36953427-36953428	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs192108361	chr6:36953461-36953462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs555928713	chr6:36953486-36953487	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs575882527	chr6:36953488-36953489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs377190067	chr6:36953498-36953499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs184044621	chr6:36953583-36953584	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs376367920	chr6:36953612-36953613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs370407021	chr6:36953620-36953621	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs373599497	chr6:36953650-36953651	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs11548581	chr6:36953658-36953659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs558454423	chr6:36953662-36953663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs11548579	chr6:36953713-36953714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs578202903	chr6:36953718-36953719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs545428760	chr6:36953739-36953740	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs552930498	chr6:36953771-36953772	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs199897411	chr6:36953780-36953781	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs541894384	chr6:36953801-36953802	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs561474203	chr6:36953807-36953808	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs530592565	chr6:36953863-36953864	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs55902549	chr6:36953884-36953885	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs202185562	chr6:36953903-36953904	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs564000422	chr6:36953904-36953905	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs35538959	chr6:36953920-36953921	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs533263243	chr6:36953938-36953939	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs548529728	chr6:36953965-36953966	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
40	rs573575577	chr6:36953972-36953973	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
41	rs542448999	chr6:36953976-36953977	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs566840767	chr6:36953988-36953989	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs529296656	chr6:36953989-36953990	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs562359471	chr6:36953995-36953996	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs549468287	chr6:36954002-36954003	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs369903108	chr6:36954003-36954004	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs569387291	chr6:36954004-36954005	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs142461260	chr6:36954022-36954023	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs145983914	chr6:36954025-36954026	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs138959519	chr6:36954053-36954054	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36951400-36953400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr6:36951600-36953400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:36951800-36953200	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr6:36951800-36953200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:36951800-36953400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr6:36951800-36953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr6:36951800-36953400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:36952000-36953200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:36952000-36953400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr6:36952200-36953200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr6:36952200-36953200	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr6:36952200-36953400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr6:36952200-36953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:36952200-36953400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:36952200-36953400	Flanking Active TSS	Fetal Brain Female	brain
16	chr6:36952200-36953600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:36952200-36954600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:36952200-36955200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:36952200-36955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36952400-36953200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:36952400-36953200	Flanking Active TSS	Fetal Brain Male	brain
22	chr6:36952400-36953200	Flanking Active TSS	Fetal Thymus	thymus
23	chr6:36952400-36953200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr6:36952400-36953200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:36952400-36953400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:36952400-36953800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr6:36952400-36954400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:36952400-36954800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:36952400-36954800	Active TSS	A549	lung
30	chr6:36952400-36955000	Active TSS	Ovary	ovary
31	chr6:36952400-36955200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:36952600-36953400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr6:36952600-36953400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:36952600-36953400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr6:36952600-36953400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:36952600-36953800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:36952600-36954400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:36952600-36954600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:36952600-36954600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:36952600-36954600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:36952600-36954600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:36952600-36954600	Active TSS	NHLF	lung
43	chr6:36952600-36954800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr6:36952600-36954800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:36952600-36954800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:36952600-36954800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:36952600-36954800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr6:36952600-36954800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:36952600-36954800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:36952600-36954800	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links