Variant report

Variant	esv1850817
Chromosome Location	chr5:60626957-60629438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:912)
CpG islands
(count:854)
Chromatin interactive
region (count:40)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	BCL3	chr5:60627431-60627737	GM12878	blood:	n/a	chr5:60627692-60627705
8	BCL3	chr5:60627783-60628206	A549	lung:	n/a	chr5:60627896-60627909 chr5:60628067-60628076
9	BCL3	chr5:60627809-60628195	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	BCLAF1	chr5:60626724-60627141	GM12878	blood:	n/a	chr5:60627009-60627022 chr5:60626759-60626772 chr5:60627110-60627123
12	BHLHE40	chr5:60627940-60628187	K562	blood:	n/a	n/a
13	BHLHE40	chr5:60626718-60628187	GM12878	blood:	n/a	chr5:60626775-60626791 chr5:60626760-60626776 chr5:60627129-60627145
14	BHLHE40	chr5:60627111-60627187	K562	blood:	n/a	chr5:60627129-60627145
15	BHLHE40	chr5:60626890-60627108	A549	lung:	n/a	n/a
16	BHLHE40	chr5:60627507-60627704	K562	blood:	n/a	n/a
17	BRCA1	chr5:60627500-60628169	Hela-S3	cervix:	n/a	n/a
18	CCNT2	chr5:60626779-60627173	K562	blood:	n/a	n/a
19	CCNT2	chr5:60629197-60629799	K562	blood:	n/a	chr5:60629297-60629306
20	CCNT2	chr5:60627662-60628935	K562	blood:	n/a	chr5:60627896-60627905
21	CEBPB	chr5:60627863-60628139	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:60626320-60627640	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr5:60627487-60627895	HepG2	liver:	n/a	n/a
24	CEBPD	chr5:60626778-60627036	HepG2	liver:	n/a	n/a
25	CHD1	chr5:60626942-60628053	GM12878	blood:	n/a	chr5:60627826-60627836
26	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
27	CHD1	chr5:60627303-60627380	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr5:60628920-60628974	GM12878	blood:	n/a	n/a
29	CHD1	chr5:60629350-60629626	GM12878	blood:	n/a	chr5:60629352-60629362
30	CHD1	chr5:60628972-60629038	H1-hESC	embryonic stem cell:	n/a	chr5:60629024-60629034
31	CHD1	chr5:60628383-60628391	GM12878	blood:	n/a	n/a
32	CHD2	chr5:60627988-60628147	HepG2	liver:	n/a	n/a
33	CHD2	chr5:60627436-60628141	H1-hESC	embryonic stem cell:	n/a	chr5:60627826-60627836
34	CHD2	chr5:60626205-60628374	Hela-S3	cervix:	n/a	chr5:60627826-60627836
35	CHD2	chr5:60628670-60629383	Hela-S3	cervix:	n/a	chr5:60629024-60629034 chr5:60629116-60629123 chr5:60629352-60629362
36	CHD2	chr5:60628927-60628953	GM12878	blood:	n/a	n/a
37	CHD2	chr5:60627083-60627249	HepG2	liver:	n/a	n/a
38	CHD2	chr5:60627898-60628132	K562	blood:	n/a	n/a
39	CHD2	chr5:60627531-60627576	K562	blood:	n/a	n/a
40	CHD2	chr5:60626888-60628163	GM12878	blood:	n/a	chr5:60627826-60627836
41	CREB1	chr5:60627609-60628356	K562	blood:	n/a	n/a
42	CREB1	chr5:60626403-60627115	A549	lung:	n/a	n/a
43	CREB1	chr5:60627543-60628161	A549	lung:	n/a	n/a
44	CREB1	chr5:60627419-60628294	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr5:60627444-60628526	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr5:60627404-60628363	GM12878	blood:	n/a	n/a
47	CREB1	chr5:60626338-60628363	HepG2	liver:	n/a	n/a
48	CREB1	chr5:60628621-60628948	A549	lung:	n/a	n/a
49	CREB1	chr5:60627688-60628187	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr5:60627273-60628282	A549	lung:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60628018-60628068	MCF-7	breast:	n/a
2	chr5:60626960-60627010	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:60628093-60628143	HMEC	breast:	n/a
4	chr5:60627633-60627683	SK-N-MC	brain:	n/a
5	chr5:60627852-60627902	Jurkat	blood:	n/a
6	chr5:60628093-60628143	HepG2	liver:	n/a
7	chr5:60628093-60628143	T-47D	breast:	n/a
8	chr5:60628093-60628143	ProgFib	skin:	n/a
9	chr5:60628030-60628080	PrEC	prostate:	n/a
10	chr5:60628030-60628080	IMR90	lung:	fetal
11	chr5:60628376-60628426	BE2_C	brain:	n/a
12	chr5:60628030-60628080	HRCEpiC	kidney:	n/a
13	chr5:60628030-60628080	ProgFib	skin:	n/a
14	chr5:60627633-60627683	ovcar-3	ovarian:	n/a
15	chr5:60626960-60627010	Caco-2	colon:	n/a
16	chr5:60629121-60629171	IMR90	lung:	fetal
17	chr5:60628018-60628068	HEK293	kidney:	embryo
18	chr5:60628016-60628066	GM12891	blood:	n/a
19	chr5:60627447-60627497	MCF10A-Er-Src	breast:	n/a
20	chr5:60628008-60628058	AG09309	skin:	n/a
21	chr5:60628891-60628941	AG10803	skin:	n/a
22	chr5:60628016-60628066	ECC-1	luminal epithelium:	n/a
23	chr5:60626960-60627010	HMEC	breast:	n/a
24	chr5:60628376-60628426	PFSK-1	brain:	n/a
25	chr5:60628891-60628941	HUVEC	blood vessel:	n/a
26	chr5:60628030-60628080	HNPCEpiC	eye:	n/a
27	chr5:60628016-60628066	AG10803	skin:	n/a
28	chr5:60628018-60628068	A549	lung:	n/a
29	chr5:60628030-60628080	NHBE	bronchial:	n/a
30	chr5:60627633-60627683	HUVEC	blood vessel:	n/a
31	chr5:60628030-60628080	PANC-1	pancreas:	n/a
32	chr5:60628030-60628080	Caco-2	colon:	n/a
33	chr5:60628030-60628080	BE2_C	brain:	n/a
34	chr5:60628030-60628080	U87	brain:	n/a
35	chr5:60628030-60628080	ECC-1	luminal epithelium:	n/a
36	chr5:60628875-60628925	AG04450	lung:	fetal
37	chr5:60628008-60628058	SK-N-SH	brain:	n/a
38	chr5:60627633-60627683	HCM	heart:	n/a
39	chr5:60627852-60627902	CMK	blood:	n/a
40	chr5:60628018-60628068	Caco-2	colon:	n/a
41	chr5:60626960-60627010	AG09309	skin:	n/a
42	chr5:60628093-60628143	BJ	skin:	n/a
43	chr5:60627447-60627497	AG09319	gingival:	n/a
44	chr5:60628376-60628426	Hela-S3	cervix:	n/a
45	chr5:60628875-60628925	HUVEC	blood vessel:	n/a
46	chr5:60628016-60628066	LNCaP	prostate:	n/a
47	chr5:60627633-60627683	HEK293	kidney:	embryo
48	chr5:60629121-60629171	NB4	blood:	n/a
49	chr5:60628018-60628068	NHBE	bronchial:	n/a
50	chr5:60628875-60628925	AG09319	gingival:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:38738225..38738815-chr5:60627910..60628424,2	Hela-S3	cervix:
2	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
3	chr5:60627777..60628559-chr6:114292385..114293123,2	Hela-S3	cervix:
4	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
5	chr5:60628107..60631036-chr5:60638453..60640753,2	K562	blood:
6	chr11:18655522..18656332-chr5:60627731..60628504,2	Hela-S3	cervix:
7	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
8	chr5:60469553..60471380-chr5:60625380..60627759,2	MCF-7	breast:
9	chr12:8088332..8089205-chr5:60627015..60627897,2	NB4	blood:
10	chr5:60626139..60628076-chr5:60895124..60897725,2	MCF-7	breast:
11	chr5:60627900..60628455-chrX:23760726..23761540,2	Hela-S3	cervix:
12	chr5:60463125..60463841-chr5:60626532..60627147,2	MCF-7	breast:
13	chr5:60626093..60627678-chr5:60926976..60929648,2	MCF-7	breast:
14	chr5:60458177..60458944-chr5:60627957..60628524,2	Hela-S3	cervix:
15	chr5:60616098..60618418-chr5:60628715..60630445,3	K562	blood:
16	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
17	chr1:115052362..115054951-chr5:60627006..60628857,2	MCF-7	breast:
18	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
19	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
20	chr11:393896..394696-chr5:60627910..60628410,2	Hela-S3	cervix:
21	chr20:47662713..47663495-chr5:60628124..60628666,2	Hela-S3	cervix:
22	chr5:60456578..60458142-chr5:60626719..60629470,2	K562	blood:
23	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
24	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
25	chr11:62572558..62573374-chr5:60627890..60628531,2	HCT-116	colon:
26	chr5:60353410..60356120-chr5:60624338..60627119,3	MCF-7	breast:
27	chr5:60629276..60630021-chr5:60916827..60917341,2	MCF-7	breast:
28	chr10:121410512..121411197-chr5:60627900..60628538,2	Hela-S3	cervix:
29	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:
30	chr5:60628455..60630619-chr5:61175090..61177005,2	MCF-7	breast:
31	chr5:60463053..60463874-chr5:60626475..60627223,2	MCF-7	breast:
32	chr5:60627247..60628096-chr6:31632990..31633709,2	Hela-S3	cervix:
33	chr5:60458072..60458957-chr5:60626924..60627633,2	MCF-7	breast:
34	chr5:60627981..60628508-chr5:128430013..128430866,2	HCT-116	colon:
35	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:
36	chr5:60628464..60630386-chr5:60657192..60659547,2	MCF-7	breast:
37	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
38	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
39	chr5:60608445..60610202-chr5:60628831..60630398,2	MCF-7	breast:
40	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf43-2	chr5:60627967-60628034	NONHSAT101668
2	lnc-C5orf43-2	chr5:60627592-60627805	XLOC_004841

No data

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

Extended variants
information (count: 97 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12516495	chr5:60626957-60626958	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs573948597	chr5:60626969-60626970	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs141653222	chr5:60627001-60627002	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs377015480	chr5:60627004-60627005	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs370966845	chr5:60627031-60627032	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs146200644	chr5:60627039-60627040	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs550782836	chr5:60627041-60627042	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs570623734	chr5:60627054-60627055	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs539649733	chr5:60627115-60627116	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs552966321	chr5:60627129-60627130	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs566776227	chr5:60627138-60627139	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs535091364	chr5:60627177-60627178	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs544262478	chr5:60627183-60627184	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs113900846	chr5:60627194-60627195	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs574992030	chr5:60627226-60627227	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs543944078	chr5:60627241-60627242	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs185540458	chr5:60627255-60627256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs544643914	chr5:60627304-60627305	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs577786770	chr5:60627338-60627339	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs540441807	chr5:60627388-60627389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs560605527	chr5:60627404-60627405	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs529617749	chr5:60627428-60627429	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs368646409	chr5:60627429-60627430	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs562938672	chr5:60627436-60627437	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs111685626	chr5:60627455-60627456	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs190395572	chr5:60627456-60627457	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs548545328	chr5:60627498-60627499	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs370974449	chr5:60627505-60627506	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs571794097	chr5:60627508-60627509	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs533128720	chr5:60627509-60627510	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs181468488	chr5:60627511-60627512	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs185713217	chr5:60627515-60627516	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs535789571	chr5:60627521-60627522	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs376327074	chr5:60627523-60627524	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs555059810	chr5:60627526-60627527	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs113507871	chr5:60627555-60627556	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs375768291	chr5:60627582-60627583	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs367942626	chr5:60627593-60627594	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs557396198	chr5:60627596-60627597	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
40	rs188568548	chr5:60627610-60627611	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs534108464	chr5:60627611-60627612	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs180930759	chr5:60627616-60627617	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs186227894	chr5:60627632-60627633	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs190698438	chr5:60627650-60627651	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs372109986	chr5:60627661-60627662	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs566800787	chr5:60627668-60627669	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs184245043	chr5:60627688-60627689	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs543262370	chr5:60627699-60627700	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs563181243	chr5:60627723-60627724	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs576479965	chr5:60627778-60627779	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	12 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:213 , 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	chr5:60625800-60627400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:60625800-60628800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:60625800-60628800	Active TSS	Brain Germinal Matrix	brain
10	chr5:60625800-60630000	Active TSS	Fetal Lung	lung
11	chr5:60625800-60630200	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr5:60625800-60630400	Active TSS	Fetal Brain Female	brain
13	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
14	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:60625800-60631000	Active TSS	HSMM	muscle
16	chr5:60626000-60627000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr5:60626000-60627200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:60626000-60627200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr5:60626000-60627400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr5:60626000-60627800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:60626000-60627800	Active TSS	Fetal Heart	heart
22	chr5:60626000-60628200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:60626000-60629400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:60626000-60629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:60626000-60629800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:60626000-60629800	Active TSS	Primary T cells from cord blood	blood
27	chr5:60626000-60630000	Active TSS	Psoas Muscle	Psoas
28	chr5:60626000-60630000	Active TSS	Rectal Smooth Muscle	rectum
29	chr5:60626000-60630000	Active TSS	Hela-S3	cervix
30	chr5:60626000-60630200	Active TSS	Pancreas	Pancrea
31	chr5:60626000-60630400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:60626000-60630600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:60626000-60630800	Active TSS	Aorta	Aorta
34	chr5:60626000-60630800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr5:60626000-60630800	Active TSS	Ovary	ovary
36	chr5:60626000-60630800	Active TSS	Right Atrium	heart
37	chr5:60626000-60631000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:60626000-60631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:60626000-60631200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:60626000-60631200	Active TSS	Brain Cingulate Gyrus	brain
41	chr5:60626000-60631200	Active TSS	Right Ventricle	heart
42	chr5:60626000-60631400	Active TSS	Fetal Kidney	kidney
43	chr5:60626000-60631600	Active TSS	NHLF	lung
44	chr5:60626200-60627000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:60626200-60627400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr5:60626200-60627400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:60626200-60628200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:60626200-60628800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:60626200-60629400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:60626200-60629800	Active TSS	H9 Cell Line	embryonic stem cell

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