Variant report

Variant	esv19906
Chromosome Location	chr6:36951876-36955062
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	chr6:36952751-36952758	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:36953849-36954297	HepG2	liver:	n/a	n/a
4	ATF1	chr6:36953805-36954407	K562	blood:	n/a	n/a
5	ATF2	chr6:36952366-36953109	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:36953752-36954392	GM12878	blood:	n/a	n/a
7	ATF3	chr6:36953709-36954310	HepG2	liver:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954234-36954243
8	ATF3	chr6:36953729-36954147	H1-hESC	embryonic stem cell:	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	chr6:36953708-36954212	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
11	ATF3	chr6:36953803-36954026	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
12	ATF3	chr6:36953764-36954186	HepG2	liver:	n/a	chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954012-36954021
13	ATF3	chr6:36953834-36954138	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
14	ATF3	chr6:36953716-36954157	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
15	ATF3	chr6:36954222-36954583	K562	blood:	n/a	chr6:36954234-36954243
16	ATF3	chr6:36953783-36954204	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
17	BACH1	chr6:36953937-36954469	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCLAF1	chr6:36953567-36954167	GM12878	blood:	n/a	chr6:36954128-36954141 chr6:36954152-36954165 chr6:36954016-36954029
19	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
20	BHLHE40	chr6:36954760-36954955	GM12878	blood:	n/a	n/a
21	BHLHE40	chr6:36952725-36953145	GM12878	blood:	n/a	n/a
22	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
23	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
24	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
25	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
26	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
27	BRCA1	chr6:36953873-36954230	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr6:36953847-36954512	HepG2	liver:	n/a	n/a
29	BRCA1	chr6:36953704-36954301	GM12878	blood:	n/a	n/a
30	BRCA1	chr6:36953874-36954406	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr6:36953534-36955213	K562	blood:	n/a	n/a
32	CCNT2	chr6:36953629-36954539	K562	blood:	n/a	chr6:36954234-36954243 chr6:36954419-36954428 chr6:36954018-36954027 chr6:36954012-36954021
33	CEBPB	chr6:36954044-36954119	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPD	chr6:36953760-36954149	HepG2	liver:	n/a	n/a
35	CEBPD	chr6:36953658-36954552	HepG2	liver:	n/a	n/a
36	CEBPD	chr6:36953587-36954216	K562	blood:	n/a	n/a
37	CHD1	chr6:36952714-36953195	GM12878	blood:	n/a	chr6:36952852-36952862
38	CHD1	chr6:36953627-36954579	GM12878	blood:	n/a	chr6:36954334-36954344
39	CHD1	chr6:36953608-36954514	H1-hESC	embryonic stem cell:	n/a	chr6:36954334-36954344
40	CHD1	chr6:36951658-36955228	IMR90	lung:	n/a	chr6:36953547-36953557 chr6:36952852-36952862 chr6:36954334-36954344
41	CHD1	chr6:36952864-36953341	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr6:36953756-36954588	Hela-S3	cervix:	n/a	chr6:36954334-36954344
43	CHD2	chr6:36952746-36953010	HepG2	liver:	n/a	chr6:36952852-36952862
44	CHD2	chr6:36952644-36953339	H1-hESC	embryonic stem cell:	n/a	chr6:36952852-36952862
45	CHD2	chr6:36953731-36954539	GM12878	blood:	n/a	chr6:36954334-36954344
46	CHD2	chr6:36952603-36953271	GM12878	blood:	n/a	chr6:36952852-36952862
47	CHD2	chr6:36952644-36953317	K562	blood:	n/a	chr6:36952852-36952862
48	CHD2	chr6:36953748-36954304	HepG2	liver:	n/a	n/a
49	CHD2	chr6:36952476-36953416	Hela-S3	cervix:	n/a	chr6:36952852-36952862
50	CHD2	chr6:36953917-36954196	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36953694-36953744	H1-hESC	embryonic stem cell:	embryo
2	chr6:36953694-36953744	H1-hESC	embryonic stem cell:	embryo
3	chr6:36954695-36954745	PANC-1	pancreas:	n/a
4	chr6:36954138-36954188	ovcar-3	ovarian:	n/a
5	chr6:36954133-36954183	PFSK-1	brain:	n/a
6	chr6:36953962-36954012	HRE	kidney:	n/a
7	chr6:36953694-36953744	K562	blood:	n/a
8	chr6:36954195-36954245	AG10803	skin:	n/a
9	chr6:36954695-36954745	HNPCEpiC	eye:	n/a
10	chr6:36954170-36954220	PrEC	prostate:	n/a
11	chr6:36954133-36954183	AG09309	skin:	n/a
12	chr6:36954138-36954188	BJ	skin:	n/a
13	chr6:36954195-36954245	HCM	heart:	n/a
14	chr6:36953694-36953744	HUVEC	blood vessel:	n/a
15	chr6:36954195-36954245	IMR90	lung:	fetal
16	chr6:36954133-36954183	PrEC	prostate:	n/a
17	chr6:36954195-36954245	SKMC	muscle:	n/a
18	chr6:36953694-36953744	ProgFib	skin:	n/a
19	chr6:36954170-36954220	Hepatocyte	liver:	n/a
20	chr6:36954695-36954745	BE2_C	brain:	n/a
21	chr6:36953694-36953744	HCT-116	colon:	n/a
22	chr6:36954695-36954745	GM12891	blood:	n/a
23	chr6:36953962-36954012	NB4	blood:	n/a
24	chr6:36954138-36954188	SKMC	muscle:	n/a
25	chr6:36954170-36954220	CMK	blood:	n/a
26	chr6:36954695-36954745	NHBE	bronchial:	n/a
27	chr6:36954249-36954299	GM12891	blood:	n/a
28	chr6:36954695-36954745	HL-60	blood:	n/a
29	chr6:36953694-36953744	HRCEpiC	kidney:	n/a
30	chr6:36954195-36954245	K562	blood:	n/a
31	chr6:36954195-36954245	HRPEpiC	eye:	n/a
32	chr6:36953694-36953744	NT2-D1	testis:	n/a
33	chr6:36954249-36954299	HNPCEpiC	eye:	n/a
34	chr6:36954133-36954183	A549	lung:	n/a
35	chr6:36954170-36954220	HEEpiC	esophagus:	n/a
36	chr6:36954138-36954188	HEEpiC	esophagus:	n/a
37	chr6:36954249-36954299	Hela-S3	cervix:	n/a
38	chr6:36954138-36954188	A549	lung:	n/a
39	chr6:36954695-36954745	SKMC	muscle:	n/a
40	chr6:36954170-36954220	HCM	heart:	n/a
41	chr6:36954138-36954188	HL-60	blood:	n/a
42	chr6:36954138-36954188	GM19239	blood:	n/a
43	chr6:36954170-36954220	AG04450	lung:	fetal
44	chr6:36954138-36954188	HRE	kidney:	n/a
45	chr6:36954138-36954188	SK-N-SH_RA	brain:	n/a
46	chr6:36954138-36954188	HCT-116	colon:	n/a
47	chr6:36954695-36954745	AG10803	skin:	n/a
48	chr6:36954695-36954745	NHDF-neo	bronchial:	n/a
49	chr6:36954170-36954220	HRPEpiC	eye:	n/a
50	chr6:36954195-36954245	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:
2	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
3	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
4	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
5	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:
6	chr10:74033541..74034167-chr6:36953934..36954557,2	Hela-S3	cervix:
7	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
8	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
9	chr6:36646638..36649501-chr6:36950264..36953112,2	MCF-7	breast:
10	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
11	chr6:36950922..36953739-chr6:37176914..37178749,2	MCF-7	breast:
12	chr6:36953605..36955180-chr6:37399250..37401093,2	K562	blood:
13	chr12:110887592..110888194-chr6:36953724..36954482,2	NB4	blood:
14	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
15	chr6:36951113..36952947-chr6:36995288..36997269,2	K562	blood:
16	chr4:15003883..15004454-chr6:36953903..36954495,2	Hela-S3	cervix:
17	chr6:36953981..36954715-chr9:94185943..94186578,2	Hela-S3	cervix:
18	chr6:36561584..36563964-chr6:36951421..36953213,2	MCF-7	breast:
19	chr6:36889896..36892689-chr6:36954303..36956712,2	MCF-7	breast:
20	chr22:38203892..38204538-chr6:36953541..36954473,2	Hela-S3	cervix:
21	chr17:7760801..7761678-chr6:36953555..36954417,2	Hela-S3	cervix:
22	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
23	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
24	chr6:36952431..36954730-chr6:36980411..36983158,3	MCF-7	breast:
25	chr1:181057607..181058228-chr6:36953385..36954212,2	NB4	blood:
26	chr12:65996353..65997155-chr6:36953845..36954457,2	HCT-116	colon:
27	chr6:36911927..36913902-chr6:36952339..36954357,2	MCF-7	breast:
28	chr6:36936791..36939065-chr6:36954271..36955828,2	MCF-7	breast:
29	chr19:55918204..55919099-chr6:36954269..36955029,2	Hela-S3	cervix:
30	chr6:36853647..36856578-chr6:36948651..36952350,3	K562	blood:
31	chr6:36949230..36952224-chr6:37136925..37139369,2	K562	blood:
32	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:

Variant related genes	Relation type
MTCH1	TF binding region
MTCH1	CpG island
ENSG00000164530	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000256268	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000232598	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000183011	chromatin interactions
ENSG00000137193	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000137168	chromatin interactions
ENSG00000182224	chromatin interactions
ENSG00000124772	chromatin interactions
ENSG00000111229	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000137200	chromatin interactions
ENSG00000100116	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000112081	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529688827	chr6:36951909-36951910	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73733425	chr6:36951953-36951954	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112588184	chr6:36951982-36951983	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs71722718	chr6:36951983-36951984	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs11280615	chr6:36951985-36951986	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs199794135	chr6:36951986-36951987	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs79421282	chr6:36951992-36951993	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs369773491	chr6:36952083-36952084	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs146972520	chr6:36952087-36952088	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs113102907	chr6:36952102-36952103	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs565718820	chr6:36952112-36952113	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs147615168	chr6:36952135-36952136	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs554539153	chr6:36952172-36952173	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs3822972	chr6:36952226-36952227	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180716590	chr6:36952245-36952246	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs556938035	chr6:36952279-36952280	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs114178996	chr6:36952294-36952295	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs62406529	chr6:36952342-36952343	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185752794	chr6:36952350-36952351	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs573337131	chr6:36952361-36952362	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs74802303	chr6:36952368-36952369	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs370082341	chr6:36952392-36952393	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs3778020	chr6:36952393-36952394	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs140854584	chr6:36952419-36952420	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs202158401	chr6:36952440-36952441	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs116681184	chr6:36952469-36952470	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs543398034	chr6:36952477-36952478	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs190122175	chr6:36952491-36952492	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs200648313	chr6:36952493-36952494	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs150574574	chr6:36952495-36952496	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs150164102	chr6:36952524-36952525	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs551962667	chr6:36952530-36952531	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs200816723	chr6:36952537-36952538	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs138667053	chr6:36952549-36952550	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs528238015	chr6:36952563-36952564	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs548373251	chr6:36952599-36952600	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs567966475	chr6:36952625-36952626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs576444172	chr6:36952671-36952672	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs533543909	chr6:36952680-36952681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs114627780	chr6:36952802-36952803	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs550502011	chr6:36952862-36952863	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs35106402	chr6:36952866-36952867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs570498745	chr6:36952878-36952879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs545278128	chr6:36952908-36952909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs149239138	chr6:36952911-36952912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs553166602	chr6:36952954-36952955	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs573305433	chr6:36952955-36952956	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs535636809	chr6:36952981-36952982	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs116530440	chr6:36953031-36953032	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
50	rs75075084	chr6:36953036-36953037	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

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:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36946200-36952000	Weak transcription	A549	lung
2	chr6:36947200-36952000	Enhancers	Colon Smooth Muscle	Colon
3	chr6:36949200-36952400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:36949400-36952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:36949600-36952200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:36949800-36952400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:36950200-36952200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:36950200-36952200	Enhancers	Right Atrium	heart
9	chr6:36950200-36952400	Enhancers	Pancreas	Pancrea
10	chr6:36950400-36952000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:36950400-36952200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:36950400-36952600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:36950400-36952600	Enhancers	Stomach Mucosa	stomach
14	chr6:36950600-36952000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:36950600-36952000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:36950600-36952000	Enhancers	Adipose Nuclei	Adipose
17	chr6:36950600-36952000	Enhancers	Brain Substantia Nigra	brain
18	chr6:36950600-36952200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:36950600-36952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:36950600-36952400	Enhancers	Liver	Liver
21	chr6:36950600-36952600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:36950800-36952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:36950800-36952000	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:36950800-36952200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:36950800-36952200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:36950800-36952200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:36950800-36952200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:36950800-36952400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:36950800-36952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:36950800-36952400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:36950800-36952400	Genic enhancers	Fetal Thymus	thymus
32	chr6:36950800-36952400	Enhancers	Ovary	ovary
33	chr6:36950800-36952600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:36950800-36952600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:36950800-36952600	Enhancers	Spleen	Spleen
36	chr6:36951000-36952000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:36951000-36952000	Enhancers	Fetal Muscle Leg	muscle
38	chr6:36951000-36952200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr6:36951000-36952200	Enhancers	Fetal Brain Female	brain
40	chr6:36951000-36952200	Enhancers	HepG2	liver
41	chr6:36951000-36952400	Enhancers	Colonic Mucosa	Colon
42	chr6:36951000-36952600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:36951000-36952600	Enhancers	Small Intestine	intestine
44	chr6:36951000-36952800	Flanking Active TSS	HUVEC	blood vessel
45	chr6:36951200-36952000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:36951200-36952000	Genic enhancers	K562	blood
47	chr6:36951200-36952200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:36951200-36952600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr6:36951200-36952600	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr6:36951200-36952800	Flanking Active TSS	Right Ventricle	heart

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