Variant report

Variant	rs610248
Chromosome Location	chr1:62899907-62899908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:62899840-62899990	GM12872	blood:	n/a	n/a
2	POLR2A	chr1:62899604-62903300	HepG2	liver:	n/a	n/a
3	STAT3	chr1:62899688-62899944	MCF10A-Er-Src	breast:	n/a	chr1:62899828-62899839
4	POLR2A	chr1:62899313-62903762	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:62899650-62900330	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:62899384-62900168	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr1:62899869-62900289	HepG2	liver:	n/a	n/a
8	STAT3	chr1:62899748-62900070	MCF10A-Er-Src	breast:	n/a	chr1:62899828-62899839
9	POLR2A	chr1:62899587-62903359	Raji	blood:	n/a	n/a
10	STAT3	chr1:62899675-62899952	MCF10A-Er-Src	breast:	n/a	chr1:62899828-62899839
11	CTCF	chr1:62899800-62899950	RPTEC	kidney:	n/a	n/a
12	POLR2A	chr1:62899352-62904806	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62899539..62901299-chr1:62907455..62909142,2	MCF-7	breast:
2	chr1:62862539..62865270-chr1:62897710..62900697,2	K562	blood:

Variant related genes	Relation type
USP1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493323	1.00[EUR][1000 genomes]
rs10493325	1.00[CHB][hapmap]
rs1168121	1.00[EUR][1000 genomes]
rs12062275	1.00[CHB][hapmap]
rs12563308	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12563863	1.00[EUR][1000 genomes]
rs12565895	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12566265	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1408480	1.00[EUR][1000 genomes]
rs17123615	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123688	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123694	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123705	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123712	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17123721	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17123725	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17123740	1.00[EUR][1000 genomes]
rs17123743	1.00[EUR][1000 genomes]
rs2016736	1.00[EUR][1000 genomes]
rs34898550	1.00[EUR][1000 genomes]
rs36157139	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3737890	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55709519	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56094630	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56193814	1.00[EUR][1000 genomes]
rs56792530	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57022388	1.00[EUR][1000 genomes]
rs59505425	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59662235	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59816054	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60339595	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61308091	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61501887	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076653	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076654	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076668	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076670	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076686	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076689	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076691	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076695	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076699	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076907	1.00[EUR][1000 genomes]
rs74076909	1.00[EUR][1000 genomes]
rs74078610	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74078643	1.00[EUR][1000 genomes]
rs74078661	1.00[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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62890600-62901000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:62891000-62901000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:62891000-62901000	Weak transcription	NHEK	skin
4	chr1:62892200-62900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:62895000-62901000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:62895200-62900200	Weak transcription	HepG2	liver
7	chr1:62895600-62900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:62895600-62900800	Weak transcription	HMEC	breast
9	chr1:62895600-62901000	Weak transcription	HSMMtube	muscle
10	chr1:62899200-62900200	Enhancers	Fetal Heart	heart
11	chr1:62899400-62900000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:62899400-62900000	Enhancers	HSMM	muscle
13	chr1:62899600-62900000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:62899800-62900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:62899800-62900200	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:62899800-62901000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:62899800-62901000	Weak transcription	NHDF-Ad	bronchial

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