Variant report

Variant	rs62454824
Chromosome Location	chr7:27498522-27498523
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:27498243-27498526	GM12891	blood:	n/a	n/a
2	HEY1	chr7:27498266-27498525	K562	blood:	n/a	n/a
3	POLR2A	chr7:27498166-27498555	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:27498152-27498559	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:27498264-27498578	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:27498446-27498617	Hela-S3	cervix:	n/a	n/a
7	HEY1	chr7:27498261-27498543	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:27498030-27498600	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:27498217-27498565	GM12892	blood:	n/a	n/a
10	TAF1	chr7:27498354-27498543	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:27498238-27498545	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr7:27498245-27498630	K562	blood:	n/a	n/a
13	TAF1	chr7:27498346-27498527	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:27498367-27498527	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27498473-27498523	HCF	heart:	n/a
2	chr7:27498479-27498529	ProgFib	skin:	n/a
3	chr7:27498479-27498529	HRPEpiC	eye:	n/a
4	chr7:27498473-27498523	AG09309	skin:	n/a
5	chr7:27498479-27498529	BE2_C	brain:	n/a
6	chr7:27498479-27498529	AG09319	gingival:	n/a
7	chr7:27498479-27498529	ECC-1	luminal epithelium:	n/a
8	chr7:27498473-27498523	PANC-1	pancreas:	n/a
9	chr7:27498473-27498523	Hepatocyte	liver:	n/a
10	chr7:27498479-27498529	PANC-1	pancreas:	n/a
11	chr7:27498473-27498523	NHBE	bronchial:	n/a
12	chr7:27498473-27498523	K562	blood:	n/a
13	chr7:27498473-27498523	AG10803	skin:	n/a
14	chr7:27498479-27498529	PFSK-1	brain:	n/a
15	chr7:27498473-27498523	MCF10A-Er-Src	breast:	n/a
16	chr7:27498473-27498523	SK-N-SH	brain:	n/a
17	chr7:27498479-27498529	RPTEC	kidney:	n/a
18	chr7:27498479-27498529	HEEpiC	esophagus:	n/a
19	chr7:27498479-27498529	H1-hESC	embryonic stem cell:	embryo
20	chr7:27498479-27498529	NB4	blood:	n/a
21	chr7:27498473-27498523	H1-hESC	embryonic stem cell:	embryo
22	chr7:27498473-27498523	Caco-2	colon:	n/a
23	chr7:27498479-27498529	AG04450	lung:	fetal
24	chr7:27498479-27498529	HL-60	blood:	n/a
25	chr7:27498479-27498529	HEK293	kidney:	embryo
26	chr7:27498473-27498523	CMK	blood:	n/a
27	chr7:27498473-27498523	T-47D	breast:	n/a
28	chr7:27498473-27498523	ovcar-3	ovarian:	n/a
29	chr7:27498473-27498523	HNPCEpiC	eye:	n/a
30	chr7:27498479-27498529	NHDF-neo	bronchial:	n/a
31	chr7:27498479-27498529	HCT-116	colon:	n/a
32	chr7:27498479-27498529	AG09309	skin:	n/a
33	chr7:27498479-27498529	CMK	blood:	n/a
34	chr7:27498479-27498529	HCF	heart:	n/a
35	chr7:27498479-27498529	LNCaP	prostate:	n/a
36	chr7:27498479-27498529	GM12892	blood:	n/a
37	chr7:27498479-27498529	HRCEpiC	kidney:	n/a
38	chr7:27498479-27498529	AoSMC	blood vessel:	n/a
39	chr7:27498479-27498529	HRE	kidney:	n/a
40	chr7:27498473-27498523	HCM	heart:	n/a
41	chr7:27498479-27498529	GM19239	blood:	n/a
42	chr7:27498479-27498529	HUVEC	blood vessel:	n/a
43	chr7:27498473-27498523	HRPEpiC	eye:	n/a
44	chr7:27498473-27498523	HRE	kidney:	n/a
45	chr7:27498473-27498523	HRCEpiC	kidney:	n/a
46	chr7:27498473-27498523	IMR90	lung:	fetal
47	chr7:27498479-27498529	HMEC	breast:	n/a
48	chr7:27498473-27498523	SK-N-MC	brain:	n/a
49	chr7:27498473-27498523	NT2-D1	testis:	n/a
50	chr7:27498473-27498523	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
PSMC1P2	TF binding region
EIF4HP1	TF binding region
EIF4HP1	CpG island
PSMC1P2	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10226764	0.85[EUR][1000 genomes]
rs11764603	0.86[EUR][1000 genomes]
rs11768077	0.86[EUR][1000 genomes]
rs11768908	0.86[EUR][1000 genomes]
rs11770627	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11772558	0.85[EUR][1000 genomes]
rs11773352	0.86[EUR][1000 genomes]
rs11773710	0.85[EUR][1000 genomes]
rs62454768	0.85[EUR][1000 genomes]
rs62454788	0.86[EUR][1000 genomes]
rs62454791	0.86[EUR][1000 genomes]
rs62454792	0.86[EUR][1000 genomes]
rs62454793	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27494200-27498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27494400-27498600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:27494400-27498600	Weak transcription	NHDF-Ad	bronchial
4	chr7:27497200-27498600	Weak transcription	Fetal Lung	lung
5	chr7:27497600-27498600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:27497600-27498600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:27498000-27499800	Enhancers	Osteobl	bone
8	chr7:27498400-27498800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:27498400-27498800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:27498400-27499000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:27498400-27499200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:27498400-27499400	Enhancers	Adipose Nuclei	Adipose
13	chr7:27498400-27499400	Enhancers	Fetal Stomach	stomach
14	chr7:27498400-27499400	Enhancers	NHLF	lung

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