Variant report

Variant	esv3404117
Chromosome Location	chr6:36952499-36955347
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	chr6:36953783-36954204	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
8	ATF3	chr6:36953764-36954186	HepG2	liver:	n/a	chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954012-36954021
9	ATF3	chr6:36953803-36954026	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
10	ATF3	chr6:36953708-36954161	H1-hESC	embryonic stem cell:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
11	ATF3	chr6:36953834-36954138	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
12	ATF3	chr6:36953709-36954310	HepG2	liver:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985 chr6:36954234-36954243
13	ATF3	chr6:36954222-36954583	K562	blood:	n/a	chr6:36954234-36954243
14	ATF3	chr6:36953729-36954147	H1-hESC	embryonic stem cell:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
15	ATF3	chr6:36953708-36954212	GM12878	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
16	ATF3	chr6:36953716-36954157	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	chr6:36953726-36954528	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
22	BHLHE40	chr6:36952725-36953145	GM12878	blood:	n/a	n/a
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	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
25	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
26	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
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	chr6:36953874-36954406	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr6:36953704-36954301	GM12878	blood:	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	chr6:36953587-36954216	K562	blood:	n/a	n/a
36	CEBPD	chr6:36953658-36954552	HepG2	liver:	n/a	n/a
37	CHD1	chr6:36951658-36955228	IMR90	lung:	n/a	chr6:36953547-36953557 chr6:36952852-36952862 chr6:36954334-36954344
38	CHD1	chr6:36953608-36954514	H1-hESC	embryonic stem cell:	n/a	chr6:36954334-36954344
39	CHD1	chr6:36952864-36953341	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr6:36952714-36953195	GM12878	blood:	n/a	chr6:36952852-36952862
41	CHD1	chr6:36953627-36954579	GM12878	blood:	n/a	chr6:36954334-36954344
42	CHD2	chr6:36953917-36954196	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr6:36953748-36954304	HepG2	liver:	n/a	n/a
44	CHD2	chr6:36953663-36954312	K562	blood:	n/a	n/a
45	CHD2	chr6:36952603-36953271	GM12878	blood:	n/a	chr6:36952852-36952862
46	CHD2	chr6:36952644-36953317	K562	blood:	n/a	chr6:36952852-36952862
47	CHD2	chr6:36952644-36953339	H1-hESC	embryonic stem cell:	n/a	chr6:36952852-36952862
48	CHD2	chr6:36952746-36953010	HepG2	liver:	n/a	chr6:36952852-36952862
49	CHD2	chr6:36953731-36954539	GM12878	blood:	n/a	chr6:36954334-36954344
50	CHD2	chr6:36953756-36954588	Hela-S3	cervix:	n/a	chr6:36954334-36954344

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36954138-36954188	HCPEpiC	choroid plexus:	n/a
2	chr6:36954249-36954299	BE2_C	brain:	n/a
3	chr6:36954170-36954220	HCPEpiC	choroid plexus:	n/a
4	chr6:36954695-36954745	HCF	heart:	n/a
5	chr6:36954195-36954245	AoSMC	blood vessel:	n/a
6	chr6:36954133-36954183	HUVEC	blood vessel:	n/a
7	chr6:36954138-36954188	K562	blood:	n/a
8	chr6:36954133-36954183	SK-N-SH_RA	brain:	n/a
9	chr6:36954249-36954299	Hepatocyte	liver:	n/a
10	chr6:36953962-36954012	GM06990	blood:	n/a
11	chr6:36954170-36954220	GM06990	blood:	n/a
12	chr6:36954695-36954745	HMEC	breast:	n/a
13	chr6:36954133-36954183	Caco-2	colon:	n/a
14	chr6:36953694-36953744	HCM	heart:	n/a
15	chr6:36954138-36954188	HL-60	blood:	n/a
16	chr6:36954133-36954183	HCF	heart:	n/a
17	chr6:36954170-36954220	AG04449	skin:	fetal
18	chr6:36954138-36954188	AG04450	lung:	fetal
19	chr6:36953694-36953744	ProgFib	skin:	n/a
20	chr6:36954195-36954245	HCPEpiC	choroid plexus:	n/a
21	chr6:36954170-36954220	AoSMC	blood vessel:	n/a
22	chr6:36953962-36954012	Jurkat	blood:	n/a
23	chr6:36954695-36954745	K562	blood:	n/a
24	chr6:36954695-36954745	U87	brain:	n/a
25	chr6:36954195-36954245	ECC-1	luminal epithelium:	n/a
26	chr6:36954195-36954245	Jurkat	blood:	n/a
27	chr6:36954249-36954299	NHDF-neo	bronchial:	n/a
28	chr6:36954695-36954745	ECC-1	luminal epithelium:	n/a
29	chr6:36953694-36953744	HCF	heart:	n/a
30	chr6:36954695-36954745	AG09309	skin:	n/a
31	chr6:36953962-36954012	IMR90	lung:	fetal
32	chr6:36953694-36953744	SK-N-SH	brain:	n/a
33	chr6:36953694-36953744	GM12891	blood:	n/a
34	chr6:36954249-36954299	ovcar-3	ovarian:	n/a
35	chr6:36954195-36954245	SAEC	small airway:	n/a
36	chr6:36953962-36954012	PFSK-1	brain:	n/a
37	chr6:36954133-36954183	HepG2	liver:	n/a
38	chr6:36953694-36953744	LNCaP	prostate:	n/a
39	chr6:36954170-36954220	K562	blood:	n/a
40	chr6:36954170-36954220	ovcar-3	ovarian:	n/a
41	chr6:36954138-36954188	PrEC	prostate:	n/a
42	chr6:36953962-36954012	SKMC	muscle:	n/a
43	chr6:36954138-36954188	U87	brain:	n/a
44	chr6:36954249-36954299	HepG2	liver:	n/a
45	chr6:36954138-36954188	NT2-D1	testis:	n/a
46	chr6:36954249-36954299	AG04449	skin:	fetal
47	chr6:36954695-36954745	Jurkat	blood:	n/a
48	chr6:36954138-36954188	HCF	heart:	n/a
49	chr6:36954249-36954299	HL-60	blood:	n/a
50	chr6:36954170-36954220	Hepatocyte	liver:	n/a

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

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

Extended variants
information (count: 115 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36950400-36952600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:36950400-36952600	Enhancers	Stomach Mucosa	stomach
3	chr6:36950600-36952600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:36950800-36952600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:36950800-36952600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:36950800-36952600	Enhancers	Spleen	Spleen
7	chr6:36951000-36952600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:36951000-36952600	Enhancers	Small Intestine	intestine
9	chr6:36951000-36952800	Flanking Active TSS	HUVEC	blood vessel
10	chr6:36951200-36952600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:36951200-36952600	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr6:36951200-36952800	Flanking Active TSS	Right Ventricle	heart
13	chr6:36951400-36952600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:36951400-36952600	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:36951400-36952600	Flanking Active TSS	NHLF	lung
16	chr6:36951400-36953400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr6:36951600-36952600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:36951600-36952800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr6:36951600-36953000	Flanking Active TSS	Hela-S3	cervix
20	chr6:36951600-36953400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:36951800-36952600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:36951800-36952600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:36951800-36952600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:36951800-36952600	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:36951800-36952600	Enhancers	Placenta	Placenta
26	chr6:36951800-36952600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:36951800-36952800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:36951800-36952800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:36951800-36952800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:36951800-36952800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:36951800-36952800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:36951800-36952800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:36951800-36952800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr6:36951800-36952800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:36951800-36952800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:36951800-36952800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:36951800-36952800	Flanking Active TSS	Fetal Heart	heart
38	chr6:36951800-36952800	Flanking Active TSS	NH-A	brain
39	chr6:36951800-36952800	Flanking Active TSS	Osteobl	bone
40	chr6:36951800-36953000	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr6:36951800-36953000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr6:36951800-36953200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr6:36951800-36953200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:36951800-36953400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:36951800-36953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:36951800-36953400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:36952000-36952600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:36952000-36952600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
49	chr6:36952000-36952600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:36952000-36952600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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