Variant report

Variant	esv3423280
Chromosome Location	chr6:37136599-37139147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1011)
CpG islands
(count:795)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:37137322-37137647	K562	blood:	n/a	chr6:37137586-37137594
2	ARID3A	chr6:37136744-37137110	K562	blood:	n/a	n/a
3	ARID3A	chr6:37136884-37137744	HepG2	liver:	n/a	chr6:37137586-37137594
4	ATF1	chr6:37137422-37137722	K562	blood:	n/a	n/a
5	ATF2	chr6:37137203-37137584	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:37136875-37137640	H1-hESC	embryonic stem cell:	n/a	chr6:37137160-37137174
7	BCLAF1	chr6:37137157-37137689	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:37138673-37138784	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:37137365-37138305	GM12878	blood:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
10	BHLHE40	chr6:37136951-37138150	HepG2	liver:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
11	BHLHE40	chr6:37136846-37139198	K562	blood:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
12	BRCA1	chr6:37137377-37137576	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr6:37137317-37137562	GM12878	blood:	n/a	n/a
14	BRCA1	chr6:37137124-37137182	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:37137369-37137744	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr6:37137402-37137580	HepG2	liver:	n/a	n/a
17	CBX3	chr6:37136599-37138752	K562	blood:	n/a	n/a
18	CCNT2	chr6:37136603-37139482	K562	blood:	n/a	chr6:37137572-37137581
19	CEBPB	chr6:37137395-37137696	K562	blood:	n/a	n/a
20	CEBPB	chr6:37137207-37137605	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:37136653-37137070	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr6:37136614-37137493	IMR90	lung:	n/a	n/a
23	CEBPB	chr6:37136608-37136941	K562	blood:	n/a	n/a
24	CEBPB	chr6:37137304-37137496	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr6:37136635-37137839	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr6:37137303-37137509	HepG2	liver:	n/a	n/a
27	CEBPB	chr6:37137294-37137494	HepG2	liver:	n/a	n/a
28	CEBPB	chr6:37136732-37136905	HepG2	liver:	n/a	n/a
29	CEBPB	chr6:37137739-37137940	HepG2	liver:	n/a	n/a
30	CEBPD	chr6:37137253-37138154	K562	blood:	n/a	n/a
31	CEBPD	chr6:37137069-37138589	HepG2	liver:	n/a	n/a
32	CEBPD	chr6:37137347-37138148	HepG2	liver:	n/a	n/a
33	CHD1	chr6:37136442-37137436	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
35	CHD1	chr6:37138056-37138824	GM12878	blood:	n/a	n/a
36	CHD1	chr6:37138142-37140204	H1-hESC	embryonic stem cell:	n/a	chr6:37138885-37138895
37	CHD2	chr6:37138693-37138893	HepG2	liver:	n/a	n/a
38	CHD2	chr6:37136693-37138364	Hela-S3	cervix:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
39	CHD2	chr6:37139134-37139473	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr6:37136922-37138059	HepG2	liver:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
41	CHD2	chr6:37138260-37138411	HepG2	liver:	n/a	n/a
42	CHD2	chr6:37136877-37137775	H1-hESC	embryonic stem cell:	n/a	chr6:37137563-37137573 chr6:37137591-37137598
43	CHD2	chr6:37137121-37138753	K562	blood:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
44	CHD2	chr6:37136886-37137874	GM12878	blood:	n/a	chr6:37137563-37137573 chr6:37137591-37137598
45	CREB1	chr6:37137464-37137689	A549	lung:	n/a	n/a
46	CREB1	chr6:37137116-37138345	GM12878	blood:	n/a	n/a
47	CREB1	chr6:37137096-37137892	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr6:37136691-37138428	K562	blood:	n/a	n/a
49	CREB1	chr6:37137418-37138135	A549	lung:	n/a	n/a
50	CREB1	chr6:37137120-37138225	H1-hESC	embryonic stem cell:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37138163-37138213	AoSMC	blood vessel:	n/a
2	chr6:37138953-37139003	Hela-S3	cervix:	n/a
3	chr6:37138163-37138213	AoSMC	blood vessel:	n/a
4	chr6:37138953-37139003	Hela-S3	cervix:	n/a
5	chr6:37137753-37137803	AG09309	skin:	n/a
6	chr6:37137738-37137788	HepG2	liver:	n/a
7	chr6:37137753-37137803	SAEC	small airway:	n/a
8	chr6:37137753-37137803	NT2-D1	testis:	n/a
9	chr6:37137819-37137869	LNCaP	prostate:	n/a
10	chr6:37137464-37137514	AoSMC	blood vessel:	n/a
11	chr6:37137227-37137277	NHBE	bronchial:	n/a
12	chr6:37137227-37137277	NH-A	brain:	n/a
13	chr6:37138238-37138288	NHBE	bronchial:	n/a
14	chr6:37137740-37137790	BE2_C	brain:	n/a
15	chr6:37137824-37137874	HRPEpiC	eye:	n/a
16	chr6:37138205-37138255	SAEC	small airway:	n/a
17	chr6:37138205-37138255	Hela-S3	cervix:	n/a
18	chr6:37137227-37137277	HNPCEpiC	eye:	n/a
19	chr6:37137071-37137121	BJ	skin:	n/a
20	chr6:37137753-37137803	NH-A	brain:	n/a
21	chr6:37137227-37137277	ovcar-3	ovarian:	n/a
22	chr6:37137071-37137121	MCF10A-Er-Src	breast:	n/a
23	chr6:37137071-37137121	GM12891	blood:	n/a
24	chr6:37137824-37137874	LNCaP	prostate:	n/a
25	chr6:37137824-37137874	NH-A	brain:	n/a
26	chr6:37137464-37137514	CMK	blood:	n/a
27	chr6:37137227-37137277	LNCaP	prostate:	n/a
28	chr6:37137733-37137783	ovcar-3	ovarian:	n/a
29	chr6:37137753-37137803	SK-N-MC	brain:	n/a
30	chr6:37138205-37138255	ovcar-3	ovarian:	n/a
31	chr6:37138163-37138213	GM12892	blood:	n/a
32	chr6:37138205-37138255	LNCaP	prostate:	n/a
33	chr6:37137740-37137790	MCF10A-Er-Src	breast:	n/a
34	chr6:37137738-37137788	PrEC	prostate:	n/a
35	chr6:37138205-37138255	AoSMC	blood vessel:	n/a
36	chr6:37138205-37138255	PrEC	prostate:	n/a
37	chr6:37137819-37137869	PrEC	prostate:	n/a
38	chr6:37138205-37138255	PANC-1	pancreas:	n/a
39	chr6:37137227-37137277	HRPEpiC	eye:	n/a
40	chr6:37138953-37139003	SK-N-SH	brain:	n/a
41	chr6:37137071-37137121	IMR90	lung:	fetal
42	chr6:37137738-37137788	GM12878	blood:	n/a
43	chr6:37138163-37138213	MCF10A-Er-Src	breast:	n/a
44	chr6:37137740-37137790	HL-60	blood:	n/a
45	chr6:37138205-37138255	NHDF-neo	bronchial:	n/a
46	chr6:37137733-37137783	NHBE	bronchial:	n/a
47	chr6:37137738-37137788	HCF	heart:	n/a
48	chr6:37138205-37138255	PFSK-1	brain:	n/a
49	chr6:37137733-37137783	SAEC	small airway:	n/a
50	chr6:37137227-37137277	GM06990	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596619..65597760-chr6:37136409..37137556,3	Hela-S3	cervix:
2	chr6:36989173..36991551-chr6:37137394..37139647,3	K562	blood:
3	chr11:62609122..62609646-chr6:37137134..37137644,2	Hela-S3	cervix:
4	chr6:37138215..37139821-chr6:37175496..37177561,2	MCF-7	breast:
5	chr16:74700266..74700841-chr6:37138061..37138960,2	Hela-S3	cervix:
6	chr11:110166877..110167627-chr6:37137088..37137655,2	Hela-S3	cervix:
7	chr6:36984736..36987348-chr6:37138212..37139729,2	K562	blood:
8	chr6:37018618..37019781-chr6:37138024..37138822,3	MCF-7	breast:
9	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:
10	chr6:37137326..37137946-chr7:128049282..128050254,2	Hela-S3	cervix:
11	chr6:37105482..37108115-chr6:37135439..37137000,2	K562	blood:
12	chr6:37101935..37102865-chr6:37138661..37139661,2	Hela-S3	cervix:
13	chr6:37138226..37140193-chr6:37227015..37228524,2	K562	blood:
14	chr2:201754063..201754563-chr6:37136960..37137461,2	NB4	blood:
15	chr16:284670..285320-chr6:37136805..37137480,2	Hela-S3	cervix:
16	chr6:26026812..26027344-chr6:37137111..37137790,2	Hela-S3	cervix:
17	chr6:37018935..37019565-chr6:37138519..37139073,2	MCF-7	breast:
18	chr6:37058109..37060738-chr6:37135509..37137809,2	MCF-7	breast:
19	chr6:37121872..37123647-chr6:37135726..37137977,2	MCF-7	breast:
20	chr3:148943029..148943740-chr6:37136791..37137329,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PIM1	TF binding region
PIM1	CpG island
ENSG00000200156	chromatin interactions
ENSG00000137710	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000168411	chromatin interactions
ENSG00000216412	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000106348	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000196290	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564397258	chr6:37136670-37136671	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539414108	chr6:37136725-37136726	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs533482654	chr6:37136727-37136728	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535316254	chr6:37136754-37136755	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540432935	chr6:37136760-37136761	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs61674779	chr6:37136805-37136806	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560741456	chr6:37136806-37136807	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs138858084	chr6:37136820-37136821	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs73415823	chr6:37136910-37136911	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549731256	chr6:37136916-37136917	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78553105	chr6:37136946-37136947	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs150397545	chr6:37136981-37136982	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs550562789	chr6:37137020-37137021	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs118038277	chr6:37137057-37137058	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs184931908	chr6:37137071-37137072	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376069173	chr6:37137072-37137073	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs188183083	chr6:37137083-37137084	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs534354477	chr6:37137084-37137085	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs115498188	chr6:37137117-37137118	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs545559700	chr6:37137131-37137132	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs535348892	chr6:37137138-37137139	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs117851020	chr6:37137164-37137165	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs6939224	chr6:37137172-37137173	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs138169397	chr6:37137201-37137202	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs113179799	chr6:37137235-37137236	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs578000812	chr6:37137259-37137260	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs182199234	chr6:37137313-37137314	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs201418393	chr6:37137339-37137340	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs567674365	chr6:37137340-37137341	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs560502645	chr6:37137408-37137409	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs262935	chr6:37137426-37137427	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs369867084	chr6:37137514-37137515	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs543263234	chr6:37137620-37137621	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs556749143	chr6:37137689-37137690	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs187167006	chr6:37137721-37137722	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs550259587	chr6:37137803-37137804	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs149579998	chr6:37137932-37137933	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs532878057	chr6:37138014-37138015	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs59116171	chr6:37138024-37138025	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546710622	chr6:37138051-37138052	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs566309196	chr6:37138070-37138071	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs113378883	chr6:37138076-37138077	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs11550058	chr6:37138078-37138079	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs192449585	chr6:37138079-37138080	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs112638151	chr6:37138126-37138127	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs555161552	chr6:37138147-37138148	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs370105824	chr6:37138151-37138152	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs568773983	chr6:37138164-37138165	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537753524	chr6:37138186-37138187	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs534533706	chr6:37138195-37138196	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37110400-37136800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37118000-37136600	Weak transcription	Right Atrium	heart
3	chr6:37123600-37137000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:37129000-37137200	Weak transcription	Small Intestine	intestine
5	chr6:37129200-37136600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:37129400-37136600	Weak transcription	Liver	Liver
7	chr6:37132800-37136600	Weak transcription	Colonic Mucosa	Colon
8	chr6:37132800-37136600	Weak transcription	GM12878-XiMat	blood
9	chr6:37133000-37136600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:37133400-37136600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:37133400-37136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:37134000-37136600	Enhancers	HepG2	liver
13	chr6:37135800-37136600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr6:37135800-37136600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:37135800-37136600	Enhancers	Fetal Stomach	stomach
16	chr6:37135800-37137400	Enhancers	Fetal Heart	heart
17	chr6:37136000-37136600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:37136000-37136600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:37136000-37136600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:37136000-37136600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:37136000-37136600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:37136000-37136600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:37136000-37136600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:37136000-37136600	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:37136000-37136600	Enhancers	Fetal Brain Male	brain
26	chr6:37136000-37136600	Enhancers	Fetal Intestine Small	intestine
27	chr6:37136000-37136600	Enhancers	Fetal Kidney	kidney
28	chr6:37136000-37136600	Enhancers	Fetal Lung	lung
29	chr6:37136000-37136600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:37136000-37136600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:37136000-37136600	Enhancers	A549	lung
32	chr6:37136000-37136600	Enhancers	Hela-S3	cervix
33	chr6:37136000-37136600	Enhancers	HUVEC	blood vessel
34	chr6:37136000-37136600	Enhancers	NHLF	lung
35	chr6:37136000-37136600	Enhancers	Osteobl	bone
36	chr6:37136000-37136800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:37136000-37136800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:37136000-37136800	Enhancers	Placenta	Placenta
39	chr6:37136000-37136800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:37136000-37137000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr6:37136000-37137200	Flanking Active TSS	K562	blood
42	chr6:37136000-37137400	Enhancers	Spleen	Spleen
43	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:37136200-37136600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr6:37136200-37136600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:37136200-37136600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:37136200-37136600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:37136200-37136600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:37136200-37136600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:37136200-37136600	Enhancers	Brain Anterior Caudate	brain

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