Variant report

Variant	rs565080822
Chromosome Location	chr5:59999871-59999872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:59999727-60000142	A549	lung:	n/a	n/a
2	FOXA1	chr5:59999775-60000021	T-47D	breast:	n/a	n/a
3	CEBPB	chr5:59999856-60000111	A549	lung:	n/a	n/a
4	CEBPB	chr5:59999774-60000259	A549	lung:	n/a	n/a
5	TEAD4	chr5:59999739-60000116	A549	lung:	n/a	n/a
6	FOSL2	chr5:59999830-60000198	A549	lung:	n/a	n/a
7	FOXA2	chr5:59999835-60000048	HepG2	liver:	n/a	n/a
8	JUND	chr5:59999840-60000117	HepG2	liver:	n/a	n/a
9	FOSL2	chr5:59999802-60000122	A549	lung:	n/a	n/a
10	GATA3	chr5:59999597-60000355	A549	lung:	n/a	n/a
11	FOXA1	chr5:59999686-60000158	T-47D	breast:	n/a	n/a
12	GATA3	chr5:59999565-60000019	T-47D	breast:	n/a	n/a
13	FOXA2	chr5:59999694-60000121	A549	lung:	n/a	n/a
14	ARID3A	chr5:59999797-60000151	HepG2	liver:	n/a	n/a
15	CEBPB	chr5:59999783-60000117	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59999842-59999892	Hela-S3	cervix:	n/a
2	chr5:59999842-59999892	HCF	heart:	n/a
3	chr5:59999842-59999892	AG09319	gingival:	n/a
4	chr5:59999842-59999892	HMEC	breast:	n/a
5	chr5:59999842-59999892	HIPEpiC	eye:	n/a
6	chr5:59999842-59999892	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:59999842-59999892	PANC-1	pancreas:	n/a
8	chr5:59999842-59999892	HL-60	blood:	n/a
9	chr5:59999842-59999892	NT2-D1	testis:	n/a
10	chr5:59999842-59999892	AG04450	lung:	fetal
11	chr5:59999842-59999892	HUVEC	blood vessel:	n/a
12	chr5:59999842-59999892	BE2_C	brain:	n/a
13	chr5:59999842-59999892	HEK293	kidney:	embryo
14	chr5:59999842-59999892	U87	brain:	n/a
15	chr5:59999842-59999892	HRPEpiC	eye:	n/a
16	chr5:59999842-59999892	PrEC	prostate:	n/a
17	chr5:59999842-59999892	NHDF-neo	bronchial:	n/a
18	chr5:59999842-59999892	NH-A	brain:	n/a
19	chr5:59999842-59999892	HCM	heart:	n/a
20	chr5:59999842-59999892	HEEpiC	esophagus:	n/a
21	chr5:59999842-59999892	T-47D	breast:	n/a
22	chr5:59999842-59999892	AG04449	skin:	fetal
23	chr5:59999842-59999892	HepG2	liver:	n/a
24	chr5:59999842-59999892	GM19239	blood:	n/a
25	chr5:59999842-59999892	LNCaP	prostate:	n/a
26	chr5:59999842-59999892	AoSMC	blood vessel:	n/a
27	chr5:59999842-59999892	ProgFib	skin:	n/a
28	chr5:59999842-59999892	GM06990	blood:	n/a
29	chr5:59999842-59999892	HRCEpiC	kidney:	n/a
30	chr5:59999842-59999892	SK-N-SH	brain:	n/a
31	chr5:59999842-59999892	A549	lung:	n/a
32	chr5:59999842-59999892	CMK	blood:	n/a
33	chr5:59999842-59999892	IMR90	lung:	fetal
34	chr5:59999842-59999892	SK-N-MC	brain:	n/a
35	chr5:59999842-59999892	SAEC	small airway:	n/a
36	chr5:59999842-59999892	H1-hESC	embryonic stem cell:	embryo
37	chr5:59999842-59999892	MCF10A-Er-Src	breast:	n/a
38	chr5:59999842-59999892	Hepatocyte	liver:	n/a
39	chr5:59999842-59999892	AG09309	skin:	n/a
40	chr5:59999842-59999892	AG10803	skin:	n/a
41	chr5:59999842-59999892	HAEpiC	amniotic membrane:	n/a
42	chr5:59999842-59999892	HCPEpiC	choroid plexus:	n/a
43	chr5:59999842-59999892	HCT-116	colon:	n/a
44	chr5:59999842-59999892	NB4	blood:	n/a
45	chr5:59999842-59999892	HNPCEpiC	eye:	n/a
46	chr5:59999842-59999892	NHBE	bronchial:	n/a
47	chr5:59999842-59999892	MCF-7	breast:	n/a
48	chr5:59999842-59999892	Jurkat	blood:	n/a
49	chr5:59999842-59999892	PFSK-1	brain:	n/a
50	chr5:59999842-59999892	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59994766..59997434-chr5:59998869..60000673,3	MCF-7	breast:
2	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
3	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
4	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
5	chr5:59998583..60001649-chr5:60008376..60010857,3	K562	blood:
6	chr5:59968561..59971245-chr5:59997935..60000093,2	MCF-7	breast:
7	chr5:59994018..59997409-chr5:59998010..60001591,3	MCF-7	breast:
8	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:

No data

Variant related genes	Relation type
DEPDC1B	TF binding region
DEPDC1B	CpG island
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3468468	chr5:59999795-60005493	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59996800-60001800	Enhancers	Placenta	Placenta
2	chr5:59999600-60000400	Enhancers	Stomach Mucosa	stomach
3	chr5:59999600-60000600	Enhancers	A549	lung

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