Variant report

Variant	rs6705905
Chromosome Location	chr2:40270534-40270535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1117016	0.81[ASN][1000 genomes]
rs11686249	0.91[ASN][1000 genomes]
rs11690334	0.81[CHB][hapmap];0.91[ASN][1000 genomes]
rs11903990	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12105254	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12473190	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12475578	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12616013	0.88[ASN][1000 genomes]
rs12617280	0.85[ASN][1000 genomes]
rs12712680	0.81[ASN][1000 genomes]
rs12986818	0.84[ASN][1000 genomes]
rs13025594	0.81[CHB][hapmap];0.95[ASN][1000 genomes]
rs17024771	0.82[EUR][1000 genomes]
rs17024886	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17024958	0.91[ASN][1000 genomes]
rs2192724	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373788	0.88[ASN][1000 genomes]
rs4952638	0.82[ASN][1000 genomes]
rs6705665	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6706273	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6714077	0.97[ASN][1000 genomes]
rs6719727	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6719947	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6727414	0.97[ASN][1000 genomes]
rs6746945	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568579	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586183	1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40264800-40270600	Weak transcription	Right Atrium	heart
2	chr2:40265400-40270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:40266600-40270800	Enhancers	NHLF	lung
4	chr2:40268000-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:40268200-40270600	Enhancers	Fetal Stomach	stomach
6	chr2:40268200-40270800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:40268200-40271800	Enhancers	NHDF-Ad	bronchial
8	chr2:40268400-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40268600-40270800	Enhancers	NH-A	brain
10	chr2:40269400-40299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40270200-40270600	Weak transcription	HSMM	muscle
12	chr2:40270200-40272000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:40270200-40272000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40270200-40272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:40270400-40270800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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