Variant report

Variant	rs7641247
Chromosome Location	chr3:157209947-157209948
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	CHD2	chr3:157209900-157209996	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:157001018..157003742-chr3:157209899..157211507,2	K562	blood:
2	chr3:156877680..156879425-chr3:157209675..157211718,2	MCF-7	breast:
3	chr3:157205290..157208283-chr3:157209694..157212147,2	K562	blood:

Variant related genes	Relation type
VEPH1	TF binding region
ENSG00000163660	Chromatin interaction
ENSG00000197415	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16827505	1.00[EUR][1000 genomes]
rs16827540	1.00[EUR][1000 genomes]
rs16827707	1.00[EUR][1000 genomes]
rs16827716	1.00[EUR][1000 genomes]
rs34655398	1.00[EUR][1000 genomes]
rs56877658	1.00[EUR][1000 genomes]
rs57807854	1.00[EUR][1000 genomes]
rs58676330	1.00[EUR][1000 genomes]
rs59935225	1.00[EUR][1000 genomes]
rs60385066	1.00[EUR][1000 genomes]
rs6441131	1.00[EUR][1000 genomes]
rs6783411	1.00[EUR][1000 genomes]
rs6803700	1.00[AMR][1000 genomes]
rs7611082	1.00[EUR][1000 genomes]
rs7616293	1.00[EUR][1000 genomes]
rs7642671	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv963284	chr3:157209628-157210772	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157185600-157211400	Weak transcription	HSMM	muscle
2	chr3:157187600-157210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:157194000-157212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:157194400-157210200	Weak transcription	NH-A	brain
5	chr3:157194600-157217000	Weak transcription	Pancreas	Pancrea
6	chr3:157194800-157212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:157198800-157210400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:157199000-157211600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:157206200-157211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:157206200-157211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:157206600-157211800	Weak transcription	NHLF	lung
12	chr3:157206800-157211200	Weak transcription	NHDF-Ad	bronchial
13	chr3:157207000-157211400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:157207200-157211400	Weak transcription	Fetal Kidney	kidney
15	chr3:157207400-157211000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:157208600-157210600	Strong transcription	Osteobl	bone
17	chr3:157209000-157211000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:157209000-157211400	Strong transcription	HUVEC	blood vessel
19	chr3:157209400-157210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:157209800-157210000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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