Variant report

Variant	esv3340625
Chromosome Location	chr5:17216602-17219300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:638)
CpG islands
(count:794)
Chromatin interactive
region (count:26)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:17216164-17216686	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:17216250-17216894	GM12878	blood:	n/a	n/a
3	ATF3	chr5:17216150-17217065	A549	lung:	n/a	n/a
4	ATF3	chr5:17216209-17216673	A549	lung:	n/a	n/a
5	BACH1	chr5:17217129-17217267	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr5:17218735-17219596	A549	lung:	n/a	chr5:17218847-17218856 chr5:17218841-17218854
7	BCL3	chr5:17216114-17216860	A549	lung:	n/a	n/a
8	BCL3	chr5:17215965-17217474	A549	lung:	n/a	chr5:17217253-17217262 chr5:17217256-17217265 chr5:17217251-17217264
9	BCLAF1	chr5:17216192-17216684	GM12878	blood:	n/a	n/a
10	BCLAF1	chr5:17216156-17216780	GM12878	blood:	n/a	n/a
11	BHLHE40	chr5:17219286-17219956	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:17218432-17218798	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:17216242-17216975	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:17216282-17216826	A549	lung:	n/a	n/a
15	BHLHE40	chr5:17219011-17219038	GM12878	blood:	n/a	n/a
16	BRCA1	chr5:17217673-17217873	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr5:17216720-17216869	GM12878	blood:	n/a	n/a
18	BRCA1	chr5:17218906-17219068	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:17215786-17217331	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr5:17218730-17219090	IMR90	lung:	n/a	n/a
21	CEBPB	chr5:17218876-17219237	A549	lung:	n/a	n/a
22	CEBPB	chr5:17218700-17219174	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr5:17217672-17217867	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr5:17216178-17216907	A549	lung:	n/a	n/a
25	CEBPB	chr5:17216283-17216915	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr5:17216123-17217345	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr5:17216329-17216630	A549	lung:	n/a	n/a
28	CEBPB	chr5:17216123-17216719	MCF-7	breast:	n/a	n/a
29	CHD1	chr5:17217678-17218025	GM12878	blood:	n/a	n/a
30	CHD1	chr5:17215944-17216869	IMR90	lung:	n/a	n/a
31	CHD1	chr5:17218661-17218796	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr5:17216903-17217103	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr5:17218465-17220357	GM12878	blood:	n/a	chr5:17218841-17218851
34	CHD1	chr5:17216273-17216883	GM12878	blood:	n/a	n/a
35	CHD2	chr5:17216100-17219472	Hela-S3	cervix:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
36	CHD2	chr5:17216229-17217302	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr5:17217621-17220199	GM12878	blood:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
38	CHD2	chr5:17216253-17217409	GM12878	blood:	n/a	n/a
39	CREB1	chr5:17218170-17218732	A549	lung:	n/a	n/a
40	CREB1	chr5:17217562-17217962	A549	lung:	n/a	n/a
41	CREB1	chr5:17216046-17217371	A549	lung:	n/a	n/a
42	CTBP2	chr5:17216156-17217263	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr5:17216659-17216665	GM12891	blood:	n/a	n/a
44	CTCF	chr5:17216740-17216890	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr5:17217712-17217806	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:17216700-17216850	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr5:17216810-17216834	Lung_OC	lung:	n/a	n/a
48	CTCF	chr5:17217096-17217280	ProgFib	skin:	n/a	n/a
49	CTCF	chr5:17216669-17217023	GM12891	blood:	n/a	n/a
50	CTCF	chr5:17217182-17217228	Lung_OC	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17218308-17218358	T-47D	breast:	n/a
2	chr5:17218308-17218358	T-47D	breast:	n/a
3	chr5:17219020-17219070	NB4	blood:	n/a
4	chr5:17216922-17216972	AG10803	skin:	n/a
5	chr5:17219239-17219289	AoSMC	blood vessel:	n/a
6	chr5:17218089-17218139	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:17217877-17217927	HRE	kidney:	n/a
8	chr5:17218308-17218358	HCM	heart:	n/a
9	chr5:17219020-17219070	CMK	blood:	n/a
10	chr5:17216679-17216729	Hela-S3	cervix:	n/a
11	chr5:17217093-17217143	NHDF-neo	bronchial:	n/a
12	chr5:17218278-17218328	GM12878	blood:	n/a
13	chr5:17217093-17217143	HNPCEpiC	eye:	n/a
14	chr5:17219020-17219070	A549	lung:	n/a
15	chr5:17217093-17217143	HRE	kidney:	n/a
16	chr5:17219226-17219276	BJ	skin:	n/a
17	chr5:17219239-17219289	HMEC	breast:	n/a
18	chr5:17219020-17219070	AG04450	lung:	fetal
19	chr5:17219020-17219070	BJ	skin:	n/a
20	chr5:17218778-17218828	HCM	heart:	n/a
21	chr5:17217093-17217143	AG04449	skin:	fetal
22	chr5:17218547-17218597	Caco-2	colon:	n/a
23	chr5:17216922-17216972	ovcar-3	ovarian:	n/a
24	chr5:17219128-17219178	T-47D	breast:	n/a
25	chr5:17216922-17216972	SKMC	muscle:	n/a
26	chr5:17218547-17218597	SK-N-SH	brain:	n/a
27	chr5:17219226-17219276	SAEC	small airway:	n/a
28	chr5:17219239-17219289	NHDF-neo	bronchial:	n/a
29	chr5:17218778-17218828	GM12878	blood:	n/a
30	chr5:17218089-17218139	AG10803	skin:	n/a
31	chr5:17219239-17219289	HCF	heart:	n/a
32	chr5:17219128-17219178	LNCaP	prostate:	n/a
33	chr5:17218778-17218828	HAEpiC	amniotic membrane:	n/a
34	chr5:17219226-17219276	HUVEC	blood vessel:	n/a
35	chr5:17217877-17217927	NHBE	bronchial:	n/a
36	chr5:17217877-17217927	HCPEpiC	choroid plexus:	n/a
37	chr5:17219239-17219289	CMK	blood:	n/a
38	chr5:17219226-17219276	NB4	blood:	n/a
39	chr5:17218547-17218597	SK-N-MC	brain:	n/a
40	chr5:17219239-17219289	HAEpiC	amniotic membrane:	n/a
41	chr5:17219128-17219178	U87	brain:	n/a
42	chr5:17218089-17218139	GM06990	blood:	n/a
43	chr5:17217093-17217143	NHBE	bronchial:	n/a
44	chr5:17218278-17218328	HNPCEpiC	eye:	n/a
45	chr5:17216922-17216972	Hela-S3	cervix:	n/a
46	chr5:17217877-17217927	HCT-116	colon:	n/a
47	chr5:17218547-17218597	U87	brain:	n/a
48	chr5:17217877-17217927	Jurkat	blood:	n/a
49	chr5:17218547-17218597	GM12892	blood:	n/a
50	chr5:17219128-17219178	PFSK-1	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
2	chr5:17218817..17220341-chr5:17246031..17248569,2	MCF-7	breast:
3	chr5:17216245..17216853-chr5:17883209..17883813,2	MCF-7	breast:
4	chr5:17216009..17216850-chr5:18113524..18114293,3	MCF-7	breast:
5	chr5:17216315..17216934-chr5:18313965..18314499,2	K562	blood:
6	chr5:17216105..17216884-chr5:18043166..18043878,2	MCF-7	breast:
7	chr5:17217250..17218193-chr7:112091218..112092135,2	Hela-S3	cervix:
8	chr5:17217787..17219336-chr5:17290050..17291601,2	MCF-7	breast:
9	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
10	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
11	chr5:17219127..17220679-chr5:17282330..17284104,2	MCF-7	breast:
12	chr5:17217945..17220809-chr5:17231815..17233949,2	MCF-7	breast:
13	chr1:24126877..24127378-chr5:17217258..17217991,2	Hela-S3	cervix:
14	chr5:17218090..17220467-chr5:17258219..17260640,2	MCF-7	breast:
15	chr5:17219030..17221287-chr5:18110895..18114151,3	MCF-7	breast:
16	chr5:17216042..17216848-chr5:18305108..18306015,2	K562	blood:
17	chr5:17215630..17217000-chr5:18305120..18306424,11	MCF-7	breast:
18	chr5:17217613..17218157-chr5:43483450..43484333,2	Hela-S3	cervix:
19	chr5:17217599..17218227-chrX:70585950..70586653,2	Hela-S3	cervix:
20	chr5:17215651..17216975-chr5:18113428..18114478,9	MCF-7	breast:
21	chr5:17218608..17221009-chr5:18112686..18115024,2	MCF-7	breast:
22	chr5:17216145..17216874-chr5:18043166..18044225,3	MCF-7	breast:
23	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
24	chr5:17216164..17216948-chr5:18281670..18282634,4	MCF-7	breast:
25	chr12:12509815..12510353-chr5:17217798..17218386,2	Hela-S3	cervix:
26	chr5:17217386..17218313-chr7:45025652..45026451,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-1	chr5:17216186-17217156	ENSG00000215196
2	lnc-MYO10-1	chr5:17216508-17217508	ENSG00000215196
3	lnc-MYO10-1	chr5:17216186-17217531	NONHSAT100620

No data

Variant related genes	Relation type
BASP1	TF binding region
ENSG00000215196	TF binding region
BASP1	CpG island
ENSG00000215196	CpG island
ENSG00000117308	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000185296	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000269466	chromatin interactions
ENSG00000147133	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000232956	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199833047	chr5:17216608-17216609	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs573800939	chr5:17216609-17216610	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs556141891	chr5:17216667-17216668	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs373765944	chr5:17216735-17216736	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs10474727	chr5:17216736-17216737	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs185863101	chr5:17216843-17216844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs561735112	chr5:17216867-17216868	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs572138694	chr5:17216914-17216915	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs541108055	chr5:17216994-17216995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs145649839	chr5:17217014-17217015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs564629671	chr5:17217044-17217045	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs533332613	chr5:17217053-17217054	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs114138806	chr5:17217099-17217100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs563784077	chr5:17217105-17217106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs142745530	chr5:17217110-17217111	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs549739125	chr5:17217115-17217116	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs568039021	chr5:17217150-17217151	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs146244333	chr5:17217163-17217164	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs558143088	chr5:17217178-17217179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs576405122	chr5:17217181-17217182	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs2731791	chr5:17217182-17217183	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs577765859	chr5:17217184-17217185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs28716534	chr5:17217206-17217207	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs533790800	chr5:17217239-17217240	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs62348037	chr5:17217377-17217378	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372678953	chr5:17217472-17217473	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs570535439	chr5:17217512-17217513	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs201194918	chr5:17217514-17217515	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs57714365	chr5:17217516-17217517	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs539209689	chr5:17217541-17217542	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs202092641	chr5:17217542-17217543	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs561772482	chr5:17217547-17217548	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs369458465	chr5:17217559-17217560	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs191410553	chr5:17217575-17217576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs575870803	chr5:17217577-17217578	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs535345385	chr5:17217614-17217615	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs555273799	chr5:17217693-17217694	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs572081998	chr5:17217778-17217779	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs541044732	chr5:17217834-17217835	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs564385338	chr5:17217855-17217856	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs147621681	chr5:17217899-17217900	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs543600737	chr5:17217974-17217975	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs563898152	chr5:17217998-17217999	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs529545863	chr5:17218023-17218024	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs543314733	chr5:17218048-17218049	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs560103663	chr5:17218154-17218155	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs527242393	chr5:17218188-17218189	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs547371380	chr5:17218240-17218241	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs370629000	chr5:17218257-17218258	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs533035287	chr5:17218305-17218306	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
2	chr5:17213800-17217200	Active TSS	Fetal Brain Male	brain
3	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:17214800-17218800	Active TSS	A549	lung
6	chr5:17215000-17217200	Flanking Active TSS	Hela-S3	cervix
7	chr5:17215000-17219400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:17215200-17217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:17215400-17216800	Active TSS	Brain Hippocampus Middle	brain
10	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:17215600-17217400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain
17	chr5:17216000-17216800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:17216000-17217200	Enhancers	Liver	Liver
19	chr5:17216000-17219400	Active TSS	Fetal Kidney	kidney
20	chr5:17216200-17216800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:17216200-17217000	Flanking Active TSS	NH-A	brain
22	chr5:17216200-17217200	Enhancers	Pancreas	Pancrea
23	chr5:17216200-17219200	Active TSS	NHLF	lung
24	chr5:17216200-17219400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:17216200-17219400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:17216200-17219800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:17216200-17219800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:17216400-17216800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:17216400-17216800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:17216400-17216800	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr5:17216400-17216800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr5:17216400-17216800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr5:17216400-17216800	Active TSS	Psoas Muscle	Psoas
34	chr5:17216400-17216800	Active TSS	Right Ventricle	heart
35	chr5:17216400-17216800	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:17216400-17217000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:17216400-17217000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:17216400-17217000	ZNF genes & repeats	Right Atrium	heart
39	chr5:17216400-17217000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr5:17216400-17217000	Flanking Active TSS	HMEC	breast
41	chr5:17216400-17217000	Flanking Active TSS	NHEK	skin
42	chr5:17216400-17217200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr5:17216400-17217200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:17216400-17217200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:17216400-17217200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:17216400-17217200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr5:17216400-17217200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr5:17216400-17217200	Flanking Active TSS	Fetal Stomach	stomach
49	chr5:17216400-17217200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr5:17216400-17217200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum

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