Variant report

Variant	rs1347441
Chromosome Location	chr2:178930041-178930042
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178926269..178929129-chr2:178929481..178932913,3	K562	blood:
2	chr2:178925975..178933021-chr2:178933088..178941034,14	K562	blood:
3	chr2:178926269..178928564-chr2:178929481..178932343,4	K562	blood:
4	chr2:178929469..178931467-chr2:178932896..178934478,2	K562	blood:

Variant related genes	Relation type
ENSG00000128655	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10176475	0.88[CHB][hapmap]
rs10198111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674668	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11677176	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11687117	0.93[JPT][hapmap]
rs11695452	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11886139	0.82[CHB][hapmap]
rs11887974	0.89[CHB][hapmap]
rs11899905	0.89[CHB][hapmap]
rs12990719	0.91[CEU][hapmap]
rs13408924	0.83[CHB][hapmap]
rs1369515	0.89[CHB][hapmap]
rs1369517	0.83[CHB][hapmap]
rs1527286	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1527287	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs1534289	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1554776	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1821629	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1836672	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1852501	0.82[ASN][1000 genomes]
rs1852502	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1852503	0.93[JPT][hapmap]
rs1880916	0.93[JPT][hapmap]
rs2043547	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2060491	0.83[EUR][1000 genomes]
rs2163647	0.83[CHB][hapmap]
rs2217838	0.89[CHB][hapmap]
rs2695101	0.91[JPT][hapmap]
rs2695109	0.93[JPT][hapmap]
rs2695115	0.93[JPT][hapmap]
rs2695730	0.93[JPT][hapmap]
rs2695731	0.81[JPT][hapmap]
rs2695737	0.93[JPT][hapmap]
rs2695757	0.87[JPT][hapmap]
rs4300869	0.83[CHB][hapmap]
rs4335982	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs4893994	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4893995	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs62183443	0.85[ASN][1000 genomes]
rs62183445	0.84[ASN][1000 genomes]
rs62185279	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433709	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6433710	0.91[CEU][hapmap]
rs6709256	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6709343	0.89[CHB][hapmap]
rs6710329	0.88[CHB][hapmap]
rs6711886	0.82[ASN][1000 genomes]
rs6714047	0.89[CHB][hapmap]
rs6738461	0.85[CHB][hapmap]
rs6738831	1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs6759109	0.87[JPT][hapmap]
rs736842	0.89[CHB][hapmap]
rs7583491	0.93[CHB][hapmap]
rs7588973	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7598623	1.00[JPT][hapmap]
rs7608073	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9288014	0.89[CHB][hapmap]
rs934568	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs9679090	0.90[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178924800-178931200	Weak transcription	Pancreas	Pancrea
2	chr2:178929200-178934200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178930000-178930600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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