Variant report

Variant	rs934798
Chromosome Location	chr2:178632479-178632480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178623467..178625919-chr2:178629707..178632850,3	MCF-7	breast:
2	chr2:178625497..178630071-chr2:178630619..178633026,4	K562	blood:
3	chr2:178129123..178130862-chr2:178630787..178632720,2	K562	blood:
4	chr2:178625185..178628577-chr2:178631352..178633958,4	K562	blood:

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10175364	0.85[JPT][hapmap]
rs10497488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10497489	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10930806	0.84[ASN][1000 genomes]
rs11684634	0.85[JPT][hapmap]
rs12622125	1.00[JPT][hapmap]
rs13031632	0.84[ASN][1000 genomes]
rs13428806	0.85[JPT][hapmap]
rs1344925	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1370655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438038	0.84[JPT][hapmap]
rs1438039	0.85[JPT][hapmap]
rs1438041	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1438048	0.85[JPT][hapmap]
rs1561319	0.85[JPT][hapmap]
rs1561320	0.85[JPT][hapmap]
rs16865764	1.00[JPT][hapmap]
rs16865769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16865791	0.85[JPT][hapmap]
rs17400325	0.84[AMR][1000 genomes]
rs1866208	0.85[JPT][hapmap]
rs1866209	0.85[JPT][hapmap]
rs1866210	0.85[JPT][hapmap]
rs1946812	0.85[JPT][hapmap]
rs2164857	0.85[JPT][hapmap]
rs2886498	0.85[JPT][hapmap]
rs34952652	0.84[ASN][1000 genomes]
rs3754991	1.00[JPT][hapmap]
rs3754993	0.85[JPT][hapmap]
rs3770028	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3770034	0.85[JPT][hapmap]
rs3770043	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3770047	0.85[JPT][hapmap]
rs3821007	1.00[JPT][hapmap]
rs3821009	0.85[JPT][hapmap]
rs4893839	0.85[JPT][hapmap]
rs4893840	0.85[JPT][hapmap]
rs4893987	1.00[JPT][hapmap]
rs57427125	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57877880	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58408943	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59657949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60748325	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61551597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62183002	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183005	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62183043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62183048	0.80[AFR][1000 genomes]
rs62183050	0.80[AFR][1000 genomes]
rs6704720	1.00[JPT][hapmap]
rs6704966	0.83[YRI][hapmap]
rs6731237	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6756240	0.82[JPT][hapmap]
rs73030327	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73030354	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs749208	0.85[JPT][hapmap]
rs7562835	1.00[JPT][hapmap]
rs7566399	0.85[YRI][hapmap]
rs7567851	0.85[JPT][hapmap]
rs7591504	0.85[YRI][hapmap]
rs998059	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr2:178628600-178632600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:178628600-178636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:178628600-178636000	Weak transcription	NHEK	skin
4	chr2:178628800-178632600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:178628800-178632600	Weak transcription	Fetal Heart	heart
6	chr2:178629200-178635400	Weak transcription	Fetal Kidney	kidney
7	chr2:178632000-178632800	Enhancers	HepG2	liver
8	chr2:178632400-178633400	Enhancers	Brain Substantia Nigra	brain

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