Variant report

Variant	rs1343793
Chromosome Location	chr2:182634966-182634967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182633217..182635237-chr2:182755609..182757825,2	MCF-7	breast:
2	chr2:182633341..182635444-chr2:182677151..182679786,2	MCF-7	breast:
3	chr2:182633948..182636625-chr2:182642874..182645576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165936	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs10173114	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10179363	0.89[YRI][hapmap]
rs10179547	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10182213	0.86[AFR][1000 genomes]
rs10183527	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183937	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10190772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs10803953	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs10930979	0.94[ASN][1000 genomes]
rs11884097	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11895376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs11901603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902910	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425734	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs13428496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867494	0.82[CHB][hapmap]
rs16867495	0.85[JPT][hapmap]
rs1881159	0.87[YRI][hapmap]
rs2037799	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582999	0.93[ASN][1000 genomes]
rs4018749	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs4508561	0.80[ASN][1000 genomes]
rs57930770	0.88[ASN][1000 genomes]
rs60384758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730859	0.89[AFR][1000 genomes]
rs6740944	0.88[ASN][1000 genomes]
rs6748354	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs6754481	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567371	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7595805	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937296	0.82[ASN][1000 genomes]
rs951542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr2:182634400-182636600	Enhancers	NHEK	skin
2	chr2:182634600-182635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:182634600-182637400	Enhancers	HMEC	breast
4	chr2:182634800-182635000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:182634800-182635400	Enhancers	Osteobl	bone
6	chr2:182634800-182635600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:182634800-182635600	Enhancers	Hela-S3	cervix
8	chr2:182634800-182636400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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