Variant report

Variant	nsv598321
Chromosome Location	chr5:60627846-60629903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:657)
CpG islands
(count:733)
Chromatin interactive
region (count:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60627998-60628086	HepG2	liver:	n/a	n/a
2	ATF1	chr5:60627780-60628205	K562	blood:	n/a	chr5:60627940-60627954
3	ATF2	chr5:60627450-60628162	GM12878	blood:	n/a	chr5:60627940-60627954
4	ATF3	chr5:60627928-60628134	K562	blood:	n/a	n/a
5	BACH1	chr5:60628815-60629381	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:60626449-60628467	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:60629636-60629872	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:60627809-60628195	A549	lung:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
9	BCL3	chr5:60627783-60628206	A549	lung:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
10	BCLAF1	chr5:60627884-60628141	GM12878	blood:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
11	BHLHE40	chr5:60627940-60628187	K562	blood:	n/a	n/a
12	BHLHE40	chr5:60626718-60628187	GM12878	blood:	n/a	chr5:60626775-60626791 chr5:60626760-60626776 chr5:60627129-60627145
13	BRCA1	chr5:60627500-60628169	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:60629711-60629714	H1-hESC	embryonic stem cell:	n/a	n/a
15	CCNT2	chr5:60629197-60629799	K562	blood:	n/a	chr5:60629297-60629306
16	CCNT2	chr5:60627662-60628935	K562	blood:	n/a	chr5:60627896-60627905
17	CEBPB	chr5:60627863-60628139	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr5:60627487-60627895	HepG2	liver:	n/a	n/a
19	CHD1	chr5:60629350-60629626	GM12878	blood:	n/a	chr5:60629352-60629362
20	CHD1	chr5:60626942-60628053	GM12878	blood:	n/a	chr5:60627826-60627836
21	CHD1	chr5:60623202-60631624	IMR90	lung:	n/a	chr5:60629730-60629740 chr5:60629024-60629034 chr5:60629683-60629693 chr5:60629116-60629123 chr5:60629352-60629362 chr5:60627826-60627836
22	CHD1	chr5:60629441-60630039	H1-hESC	embryonic stem cell:	n/a	chr5:60629730-60629740 chr5:60629683-60629693
23	CHD1	chr5:60628920-60628974	GM12878	blood:	n/a	n/a
24	CHD1	chr5:60628972-60629038	H1-hESC	embryonic stem cell:	n/a	chr5:60629024-60629034
25	CHD1	chr5:60628383-60628391	GM12878	blood:	n/a	n/a
26	CHD2	chr5:60627436-60628141	H1-hESC	embryonic stem cell:	n/a	chr5:60627826-60627836
27	CHD2	chr5:60627898-60628132	K562	blood:	n/a	n/a
28	CHD2	chr5:60629469-60629636	HepG2	liver:	n/a	n/a
29	CHD2	chr5:60628927-60628953	GM12878	blood:	n/a	n/a
30	CHD2	chr5:60628670-60629383	Hela-S3	cervix:	n/a	chr5:60629024-60629034 chr5:60629116-60629123 chr5:60629352-60629362
31	CHD2	chr5:60626888-60628163	GM12878	blood:	n/a	chr5:60627826-60627836
32	CHD2	chr5:60626205-60628374	Hela-S3	cervix:	n/a	chr5:60627826-60627836
33	CHD2	chr5:60627988-60628147	HepG2	liver:	n/a	n/a
34	CREB1	chr5:60627543-60628161	A549	lung:	n/a	n/a
35	CREB1	chr5:60626338-60628363	HepG2	liver:	n/a	n/a
36	CREB1	chr5:60627716-60628341	HepG2	liver:	n/a	n/a
37	CREB1	chr5:60628621-60628948	A549	lung:	n/a	n/a
38	CREB1	chr5:60627273-60628282	A549	lung:	n/a	n/a
39	CREB1	chr5:60627444-60628526	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr5:60627419-60628294	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr5:60627688-60628187	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr5:60627404-60628363	GM12878	blood:	n/a	n/a
43	CREB1	chr5:60627603-60628266	K562	blood:	n/a	n/a
44	CREB1	chr5:60627263-60628392	GM12878	blood:	n/a	n/a
45	CREB1	chr5:60627609-60628356	K562	blood:	n/a	n/a
46	CREB1	chr5:60627586-60628196	ECC-1	luminal epithelium:	n/a	n/a
47	CTBP2	chr5:60628893-60629840	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:60629240-60629390	GM12865	blood:	n/a	n/a
49	CTCF	chr5:60629000-60629150	AG04449	skin:	n/a	n/a
50	CTCF	chr5:60628719-60628814	Fibrobl	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60629795-60629845	HL-60	blood:	n/a
2	chr5:60629795-60629845	HL-60	blood:	n/a
3	chr5:60628008-60628058	HCM	heart:	n/a
4	chr5:60628030-60628080	GM19239	blood:	n/a
5	chr5:60628030-60628080	HEK293	kidney:	embryo
6	chr5:60628008-60628058	MCF-7	breast:	n/a
7	chr5:60629121-60629171	GM06990	blood:	n/a
8	chr5:60627852-60627902	RPTEC	kidney:	n/a
9	chr5:60628376-60628426	Caco-2	colon:	n/a
10	chr5:60629795-60629845	AoSMC	blood vessel:	n/a
11	chr5:60629121-60629171	HL-60	blood:	n/a
12	chr5:60628376-60628426	SK-N-MC	brain:	n/a
13	chr5:60629121-60629171	HRE	kidney:	n/a
14	chr5:60627852-60627902	HepG2	liver:	n/a
15	chr5:60628376-60628426	HRE	kidney:	n/a
16	chr5:60629770-60629820	Jurkat	blood:	n/a
17	chr5:60627852-60627902	AG10803	skin:	n/a
18	chr5:60627852-60627902	HPAEpiC	pulmonary alveolar:	n/a
19	chr5:60628376-60628426	HL-60	blood:	n/a
20	chr5:60628376-60628426	AG09319	gingival:	n/a
21	chr5:60628008-60628058	HIPEpiC	eye:	n/a
22	chr5:60629121-60629171	BE2_C	brain:	n/a
23	chr5:60628016-60628066	BJ	skin:	n/a
24	chr5:60627852-60627902	NHDF-neo	bronchial:	n/a
25	chr5:60628875-60628925	PANC-1	pancreas:	n/a
26	chr5:60628875-60628925	SK-N-MC	brain:	n/a
27	chr5:60628093-60628143	HCPEpiC	choroid plexus:	n/a
28	chr5:60628008-60628058	HRCEpiC	kidney:	n/a
29	chr5:60628016-60628066	U87	brain:	n/a
30	chr5:60628875-60628925	H1-hESC	embryonic stem cell:	embryo
31	chr5:60628875-60628925	AG04449	skin:	fetal
32	chr5:60628008-60628058	Caco-2	colon:	n/a
33	chr5:60629770-60629820	SK-N-SH_RA	brain:	n/a
34	chr5:60628016-60628066	PANC-1	pancreas:	n/a
35	chr5:60628016-60628066	ProgFib	skin:	n/a
36	chr5:60628093-60628143	HepG2	liver:	n/a
37	chr5:60629770-60629820	RPTEC	kidney:	n/a
38	chr5:60629795-60629845	NB4	blood:	n/a
39	chr5:60628016-60628066	GM12878	blood:	n/a
40	chr5:60628018-60628068	LNCaP	prostate:	n/a
41	chr5:60628018-60628068	Hela-S3	cervix:	n/a
42	chr5:60629795-60629845	HUVEC	blood vessel:	n/a
43	chr5:60628093-60628143	ovcar-3	ovarian:	n/a
44	chr5:60628891-60628941	U87	brain:	n/a
45	chr5:60627852-60627902	SK-N-SH	brain:	n/a
46	chr5:60628008-60628058	HEEpiC	esophagus:	n/a
47	chr5:60628891-60628941	HCPEpiC	choroid plexus:	n/a
48	chr5:60628875-60628925	HEK293	kidney:	embryo
49	chr5:60628030-60628080	NH-A	brain:	n/a
50	chr5:60628891-60628941	NH-A	brain:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60458177..60458944-chr5:60627957..60628524,2	Hela-S3	cervix:
2	chr11:62572558..62573374-chr5:60627890..60628531,2	HCT-116	colon:
3	chr5:60628107..60631036-chr5:60638453..60640753,2	K562	blood:
4	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:
5	chr11:393896..394696-chr5:60627910..60628410,2	Hela-S3	cervix:
6	chr10:121410512..121411197-chr5:60627900..60628538,2	Hela-S3	cervix:
7	chr5:60628464..60630386-chr5:60657192..60659547,2	MCF-7	breast:
8	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
9	chr5:60616098..60618418-chr5:60628715..60630445,3	K562	blood:
10	chr20:47662713..47663495-chr5:60628124..60628666,2	Hela-S3	cervix:
11	chr11:18655522..18656332-chr5:60627731..60628504,2	Hela-S3	cervix:
12	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
13	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:
14	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
15	chr5:60627981..60628508-chr5:128430013..128430866,2	HCT-116	colon:
16	chr5:60627900..60628455-chrX:23760726..23761540,2	Hela-S3	cervix:
17	chr5:60626139..60628076-chr5:60895124..60897725,2	MCF-7	breast:
18	chr5:60627777..60628559-chr6:114292385..114293123,2	Hela-S3	cervix:
19	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
20	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:
21	chr5:60628455..60630619-chr5:61175090..61177005,2	MCF-7	breast:
22	chr5:60627247..60628096-chr6:31632990..31633709,2	Hela-S3	cervix:
23	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
24	chr21:38738225..38738815-chr5:60627910..60628424,2	Hela-S3	cervix:
25	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
26	chr5:60456578..60458142-chr5:60626719..60629470,2	K562	blood:
27	chr5:60629276..60630021-chr5:60916827..60917341,2	MCF-7	breast:
28	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
29	chr12:8088332..8089205-chr5:60627015..60627897,2	NB4	blood:
30	chr5:60608445..60610202-chr5:60628831..60630398,2	MCF-7	breast:
31	chr1:115052362..115054951-chr5:60627006..60628857,2	MCF-7	breast:
32	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf43-2	chr5:60627967-60628034	NONHSAT101668

No data

Variant related genes	Relation type
ZSWIM6	TF binding region
ZSWIM6	CpG island
ENSG00000228624	chromatin interactions
ENSG00000196591	chromatin interactions
ENSG00000066583	chromatin interactions
ENSG00000273210	chromatin interactions
ENSG00000251682	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000251279	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000151929	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000184363	chromatin interactions
ENSG00000123130	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000204435	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560336314	chr5:60627847-60627848	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs200116189	chr5:60627916-60627917	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs529087900	chr5:60627972-60627973	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
4	rs549231403	chr5:60627986-60627987	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
5	rs372465344	chr5:60627994-60627995	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
6	rs568827203	chr5:60628023-60628024	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
7	rs537431687	chr5:60628051-60628052	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs550988509	chr5:60628062-60628063	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs374788320	chr5:60628154-60628155	Active TSS Weak transcription Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs565100893	chr5:60628159-60628160	Active TSS Weak transcription Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs528020839	chr5:60628181-60628182	Active TSS Weak transcription Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs571004627	chr5:60628273-60628274	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs533927298	chr5:60628327-60628328	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs553592342	chr5:60628342-60628343	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs75429795	chr5:60628411-60628412	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs111274143	chr5:60628414-60628415	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs556865061	chr5:60628450-60628451	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs576844771	chr5:60628456-60628457	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs545400594	chr5:60628504-60628505	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs111974474	chr5:60628531-60628532	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs541338051	chr5:60628575-60628576	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs190547379	chr5:60628591-60628592	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565326403	chr5:60628735-60628736	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs76811816	chr5:60628774-60628775	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs541474600	chr5:60628793-60628794	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs561228873	chr5:60628803-60628804	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs529051298	chr5:60628821-60628822	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs201098697	chr5:60628825-60628826	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs556012420	chr5:60628826-60628827	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs372172766	chr5:60628827-60628828	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs142401951	chr5:60628829-60628830	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs574031250	chr5:60628865-60628866	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs531544650	chr5:60628887-60628888	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs550951388	chr5:60628902-60628903	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs570867454	chr5:60628944-60628945	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533553667	chr5:60628953-60628954	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs547444231	chr5:60628989-60628990	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs567268628	chr5:60629018-60629019	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs536839256	chr5:60629103-60629104	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs182728817	chr5:60629133-60629134	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs150506902	chr5:60629143-60629144	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs75989234	chr5:60629236-60629237	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs559302380	chr5:60629375-60629376	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs572359708	chr5:60629448-60629449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs150501503	chr5:60629480-60629481	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs140017489	chr5:60629496-60629497	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs555031270	chr5:60629512-60629513	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs574863470	chr5:60629517-60629518	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs542409874	chr5:60629529-60629530	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs558614642	chr5:60629537-60629538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
2	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
3	chr5:60625600-60630600	Active TSS	Colon Smooth Muscle	Colon
4	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
7	chr5:60625800-60628800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:60625800-60628800	Active TSS	Brain Germinal Matrix	brain
9	chr5:60625800-60630000	Active TSS	Fetal Lung	lung
10	chr5:60625800-60630200	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr5:60625800-60630400	Active TSS	Fetal Brain Female	brain
12	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
13	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:60625800-60631000	Active TSS	HSMM	muscle
15	chr5:60626000-60628200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:60626000-60629400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:60626000-60629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:60626000-60629800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:60626000-60629800	Active TSS	Primary T cells from cord blood	blood
20	chr5:60626000-60630000	Active TSS	Psoas Muscle	Psoas
21	chr5:60626000-60630000	Active TSS	Rectal Smooth Muscle	rectum
22	chr5:60626000-60630000	Active TSS	Hela-S3	cervix
23	chr5:60626000-60630200	Active TSS	Pancreas	Pancrea
24	chr5:60626000-60630400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:60626000-60630600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:60626000-60630800	Active TSS	Aorta	Aorta
27	chr5:60626000-60630800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr5:60626000-60630800	Active TSS	Ovary	ovary
29	chr5:60626000-60630800	Active TSS	Right Atrium	heart
30	chr5:60626000-60631000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:60626000-60631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:60626000-60631200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:60626000-60631200	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:60626000-60631200	Active TSS	Right Ventricle	heart
35	chr5:60626000-60631400	Active TSS	Fetal Kidney	kidney
36	chr5:60626000-60631600	Active TSS	NHLF	lung
37	chr5:60626200-60628200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:60626200-60628800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:60626200-60629400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:60626200-60629800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr5:60626200-60629800	Active TSS	Spleen	Spleen
42	chr5:60626200-60630000	Active TSS	Fetal Intestine Large	intestine
43	chr5:60626200-60630000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:60626200-60630200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:60626200-60630200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:60626200-60630200	Active TSS	Gastric	stomach
47	chr5:60626200-60630200	Active TSS	Small Intestine	intestine
48	chr5:60626200-60630200	Active TSS	A549	lung
49	chr5:60626200-60630400	Active TSS	Brain Substantia Nigra	brain
50	chr5:60626200-60630800	Active TSS	Osteobl	bone

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