Variant report

Variant	rs6714077
Chromosome Location	chr2:40272368-40272369
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40254887..40256636-chr2:40272268..40275019,2	K562	blood:
2	chr2:40248216..40251072-chr2:40272085..40274359,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11686249	0.88[ASN][1000 genomes]
rs11690334	0.88[ASN][1000 genomes]
rs11903990	0.95[ASN][1000 genomes]
rs12105254	0.81[ASN][1000 genomes]
rs12473190	0.83[ASN][1000 genomes]
rs12475578	0.86[ASN][1000 genomes]
rs12616013	0.85[ASN][1000 genomes]
rs12617280	0.88[ASN][1000 genomes]
rs12986818	0.81[ASN][1000 genomes]
rs13025594	0.91[ASN][1000 genomes]
rs17024886	0.91[ASN][1000 genomes]
rs17024958	0.95[ASN][1000 genomes]
rs2192724	0.95[ASN][1000 genomes]
rs2373788	0.91[ASN][1000 genomes]
rs4952638	0.85[ASN][1000 genomes]
rs6705665	0.91[ASN][1000 genomes]
rs6705905	0.97[ASN][1000 genomes]
rs6706273	0.95[ASN][1000 genomes]
rs6719727	0.98[ASN][1000 genomes]
rs6719947	0.98[ASN][1000 genomes]
rs6727414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746945	0.81[ASN][1000 genomes]
rs7568579	0.86[ASN][1000 genomes]
rs7586183	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581501	chr2:40256218-40285145	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40269400-40299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40270800-40275400	Weak transcription	HSMM	muscle
3	chr2:40271000-40276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:40271400-40272600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40271800-40275600	Weak transcription	NHDF-Ad	bronchial
6	chr2:40272000-40272600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:40272000-40273000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:40272200-40273200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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