Variant report

Variant	esv3343514
Chromosome Location	chr5:17216052-17219850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:865)
CpG islands
(count:1161)
Chromatin interactive
region (count:27)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17216179-17216494	HepG2	liver:	n/a	chr5:17216400-17216408
2	ATF2	chr5:17216164-17216686	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:17216250-17216894	GM12878	blood:	n/a	n/a
4	ATF3	chr5:17216209-17216673	A549	lung:	n/a	n/a
5	ATF3	chr5:17216150-17217065	A549	lung:	n/a	n/a
6	BACH1	chr5:17217129-17217267	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr5:17216114-17216860	A549	lung:	n/a	n/a
8	BCL3	chr5:17218735-17219596	A549	lung:	n/a	chr5:17218847-17218856 chr5:17218841-17218854
9	BCL3	chr5:17215965-17217474	A549	lung:	n/a	chr5:17217253-17217262 chr5:17217256-17217265 chr5:17217251-17217264
10	BCLAF1	chr5:17216192-17216684	GM12878	blood:	n/a	n/a
11	BCLAF1	chr5:17219316-17219825	GM12878	blood:	n/a	n/a
12	BCLAF1	chr5:17216156-17216780	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:17216242-17216975	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:17219286-17219956	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:17218432-17218798	GM12878	blood:	n/a	n/a
16	BHLHE40	chr5:17216282-17216826	A549	lung:	n/a	n/a
17	BHLHE40	chr5:17219011-17219038	GM12878	blood:	n/a	n/a
18	BHLHE40	chr5:17216306-17216553	K562	blood:	n/a	n/a
19	BRCA1	chr5:17216298-17216577	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:17216720-17216869	GM12878	blood:	n/a	n/a
21	BRCA1	chr5:17215786-17217331	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:17216279-17216367	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:17218906-17219068	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:17217673-17217873	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr5:17216178-17216907	A549	lung:	n/a	n/a
26	CEBPB	chr5:17218876-17219237	A549	lung:	n/a	n/a
27	CEBPB	chr5:17218730-17219090	IMR90	lung:	n/a	n/a
28	CEBPB	chr5:17216329-17216630	A549	lung:	n/a	n/a
29	CEBPB	chr5:17216123-17216719	MCF-7	breast:	n/a	n/a
30	CEBPB	chr5:17218700-17219174	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr5:17216123-17217345	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:17217672-17217867	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr5:17219644-17219802	A549	lung:	n/a	n/a
34	CEBPB	chr5:17216283-17216915	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr5:17218661-17218796	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr5:17216903-17217103	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr5:17218465-17220357	GM12878	blood:	n/a	chr5:17218841-17218851
38	CHD1	chr5:17217678-17218025	GM12878	blood:	n/a	n/a
39	CHD1	chr5:17216273-17216883	GM12878	blood:	n/a	n/a
40	CHD1	chr5:17215944-17216869	IMR90	lung:	n/a	n/a
41	CHD2	chr5:17216229-17217302	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr5:17217621-17220199	GM12878	blood:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
43	CHD2	chr5:17216100-17219472	Hela-S3	cervix:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
44	CHD2	chr5:17216253-17217409	GM12878	blood:	n/a	n/a
45	CREB1	chr5:17218170-17218732	A549	lung:	n/a	n/a
46	CREB1	chr5:17217562-17217962	A549	lung:	n/a	n/a
47	CREB1	chr5:17216046-17217371	A549	lung:	n/a	n/a
48	CTBP2	chr5:17216156-17217263	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:17216660-17216810	WI-38	lung:	n/a	n/a
50	CTCF	chr5:17216300-17216450	GM12871	blood:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17216222-17216272	LNCaP	prostate:	n/a
2	chr5:17219128-17219178	BE2_C	brain:	n/a
3	chr5:17216222-17216272	LNCaP	prostate:	n/a
4	chr5:17219128-17219178	BE2_C	brain:	n/a
5	chr5:17217877-17217927	GM12891	blood:	n/a
6	chr5:17216922-17216972	NB4	blood:	n/a
7	chr5:17216222-17216272	H1-hESC	embryonic stem cell:	embryo
8	chr5:17219128-17219178	Hepatocyte	liver:	n/a
9	chr5:17216922-17216972	AG09309	skin:	n/a
10	chr5:17219239-17219289	IMR90	lung:	fetal
11	chr5:17219226-17219276	HUVEC	blood vessel:	n/a
12	chr5:17219128-17219178	Hela-S3	cervix:	n/a
13	chr5:17219226-17219276	SK-N-MC	brain:	n/a
14	chr5:17216222-17216272	HRPEpiC	eye:	n/a
15	chr5:17219020-17219070	ECC-1	luminal epithelium:	n/a
16	chr5:17216222-17216272	HCT-116	colon:	n/a
17	chr5:17218547-17218597	SK-N-SH	brain:	n/a
18	chr5:17216259-17216309	NB4	blood:	n/a
19	chr5:17216368-17216418	NHBE	bronchial:	n/a
20	chr5:17218778-17218828	H1-hESC	embryonic stem cell:	embryo
21	chr5:17218547-17218597	PrEC	prostate:	n/a
22	chr5:17216222-17216272	BJ	skin:	n/a
23	chr5:17216368-17216418	PFSK-1	brain:	n/a
24	chr5:17216512-17216562	NT2-D1	testis:	n/a
25	chr5:17216679-17216729	HEK293	kidney:	embryo
26	chr5:17217093-17217143	Hela-S3	cervix:	n/a
27	chr5:17217877-17217927	CMK	blood:	n/a
28	chr5:17217093-17217143	HIPEpiC	eye:	n/a
29	chr5:17218089-17218139	MCF10A-Er-Src	breast:	n/a
30	chr5:17216512-17216562	Jurkat	blood:	n/a
31	chr5:17218278-17218328	SK-N-SH	brain:	n/a
32	chr5:17216434-17216484	NHBE	bronchial:	n/a
33	chr5:17216222-17216272	BE2_C	brain:	n/a
34	chr5:17218089-17218139	HNPCEpiC	eye:	n/a
35	chr5:17216222-17216272	Caco-2	colon:	n/a
36	chr5:17216222-17216272	GM12878	blood:	n/a
37	chr5:17218308-17218358	SK-N-SH	brain:	n/a
38	chr5:17216222-17216272	MCF10A-Er-Src	breast:	n/a
39	chr5:17217093-17217143	ProgFib	skin:	n/a
40	chr5:17216679-17216729	BE2_C	brain:	n/a
41	chr5:17218778-17218828	NHBE	bronchial:	n/a
42	chr5:17218278-17218328	CMK	blood:	n/a
43	chr5:17216402-17216452	HCF	heart:	n/a
44	chr5:17219239-17219289	A549	lung:	n/a
45	chr5:17219020-17219070	HCPEpiC	choroid plexus:	n/a
46	chr5:17219020-17219070	HRE	kidney:	n/a
47	chr5:17218308-17218358	HMEC	breast:	n/a
48	chr5:17217877-17217927	Jurkat	blood:	n/a
49	chr5:17218547-17218597	GM19239	blood:	n/a
50	chr5:17218547-17218597	BE2_C	brain:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17216105..17216884-chr5:18043166..18043878,2	MCF-7	breast:
2	chr5:17217250..17218193-chr7:112091218..112092135,2	Hela-S3	cervix:
3	chr5:17219127..17220679-chr5:17282330..17284104,2	MCF-7	breast:
4	chr5:17219030..17221287-chr5:18110895..18114151,3	MCF-7	breast:
5	chr5:17217599..17218227-chrX:70585950..70586653,2	Hela-S3	cervix:
6	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
7	chr5:17216164..17216948-chr5:18281670..18282634,4	MCF-7	breast:
8	chr5:17216042..17216848-chr5:18305108..18306015,2	K562	blood:
9	chr5:17218608..17221009-chr5:18112686..18115024,2	MCF-7	breast:
10	chr5:17216315..17216934-chr5:18313965..18314499,2	K562	blood:
11	chr1:24126877..24127378-chr5:17217258..17217991,2	Hela-S3	cervix:
12	chr5:17218817..17220341-chr5:17246031..17248569,2	MCF-7	breast:
13	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
14	chr5:17218090..17220467-chr5:17258219..17260640,2	MCF-7	breast:
15	chr5:17215651..17216975-chr5:18113428..18114478,9	MCF-7	breast:
16	chr12:12509815..12510353-chr5:17217798..17218386,2	Hela-S3	cervix:
17	chr5:17219335..17222848-chr5:17226972..17230280,3	MCF-7	breast:
18	chr5:17216245..17216853-chr5:17883209..17883813,2	MCF-7	breast:
19	chr5:17217945..17220809-chr5:17231815..17233949,2	MCF-7	breast:
20	chr5:17216145..17216874-chr5:18043166..18044225,3	MCF-7	breast:
21	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
22	chr5:17217386..17218313-chr7:45025652..45026451,2	Hela-S3	cervix:
23	chr5:17217613..17218157-chr5:43483450..43484333,2	Hela-S3	cervix:
24	chr5:17217787..17219336-chr5:17290050..17291601,2	MCF-7	breast:
25	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
26	chr5:17216009..17216850-chr5:18113524..18114293,3	MCF-7	breast:
27	chr5:17215630..17217000-chr5:18305120..18306424,11	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-1	chr5:17216186-17216256	ENSG00000215196
2	lnc-MYO10-1	chr5:17216186-17217156	ENSG00000215196
3	lnc-MYO10-1	chr5:17216508-17217508	ENSG00000215196
4	lnc-MYO10-1	chr5:17216186-17217531	NONHSAT100620

No data

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

Extended variants
information (count: 107 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10562603	chr5:17216060-17216061	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192878672	chr5:17216061-17216062	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536414183	chr5:17216105-17216106	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35649571	chr5:17216114-17216115	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564510616	chr5:17216136-17216137	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545320191	chr5:17216144-17216145	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533605474	chr5:17216146-17216147	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550181782	chr5:17216172-17216173	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563114947	chr5:17216239-17216240	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs570345129	chr5:17216254-17216255	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs143734496	chr5:17216282-17216283	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs558277005	chr5:17216308-17216309	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs548211597	chr5:17216342-17216343	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs34196390	chr5:17216350-17216351	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs144714412	chr5:17216473-17216474	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs368889223	chr5:17216481-17216482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs553936401	chr5:17216578-17216579	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs576934098	chr5:17216591-17216592	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17200000-17216200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17212400-17216600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:17213400-17216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:17213600-17216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
6	chr5:17213800-17216400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:17213800-17217200	Active TSS	Fetal Brain Male	brain
8	chr5:17214000-17216200	Active TSS	Brain Angular Gyrus	brain
9	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:17214200-17216200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:17214200-17216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:17214600-17216400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:17214800-17218800	Active TSS	A549	lung
15	chr5:17215000-17216200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:17215000-17217200	Flanking Active TSS	Hela-S3	cervix
17	chr5:17215000-17219400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:17215200-17217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr5:17215400-17216800	Active TSS	Brain Hippocampus Middle	brain
20	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:17215600-17216200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:17215600-17216200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr5:17215600-17216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:17215600-17216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:17215600-17217400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:17215800-17216200	Enhancers	Osteobl	bone
29	chr5:17215800-17216400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:17215800-17216400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:17215800-17216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:17215800-17216400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr5:17215800-17216400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:17215800-17216600	Active TSS	Brain Germinal Matrix	brain
35	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain
38	chr5:17216000-17216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:17216000-17216200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:17216000-17216200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
41	chr5:17216000-17216200	Enhancers	NH-A	brain
42	chr5:17216000-17216200	Enhancers	NHLF	lung
43	chr5:17216000-17216400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:17216000-17216400	Active TSS	Primary B cells from cord blood	blood
45	chr5:17216000-17216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:17216000-17216400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:17216000-17216800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:17216000-17217200	Enhancers	Liver	Liver
49	chr5:17216000-17219400	Active TSS	Fetal Kidney	kidney
50	chr5:17216200-17216400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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