Variant report

Variant	rs6732196
Chromosome Location	chr2:48634254-48634255
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10186237	0.82[CEU][hapmap]
rs10208627	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10211336	0.89[ASN][1000 genomes]
rs10454133	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10454134	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10495951	0.83[JPT][hapmap]
rs10495952	0.83[JPT][hapmap]
rs11676168	0.81[CEU][hapmap]
rs11679523	0.83[JPT][hapmap]
rs11680719	0.86[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs11680916	0.83[JPT][hapmap]
rs11683639	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11683708	0.89[ASN][1000 genomes]
rs11685861	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs11688481	0.83[JPT][hapmap]
rs11689622	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11690690	0.83[JPT][hapmap]
rs11690748	0.83[JPT][hapmap]
rs11690845	0.83[JPT][hapmap]
rs12105983	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13399936	0.92[ASN][1000 genomes]
rs13400909	0.92[ASN][1000 genomes]
rs13401749	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs13401752	0.92[ASN][1000 genomes]
rs13429377	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17037289	0.83[JPT][hapmap]
rs17037298	0.83[JPT][hapmap]
rs17855177	0.83[JPT][hapmap]
rs4267555	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs4274640	0.92[ASN][1000 genomes]
rs4316980	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4344965	0.83[JPT][hapmap]
rs4411759	0.81[CEU][hapmap]
rs4438532	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs4494796	0.93[ASN][1000 genomes]
rs4606978	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs4638844	0.86[ASN][1000 genomes]
rs55640438	0.96[ASN][1000 genomes]
rs55744465	0.82[ASN][1000 genomes]
rs55757090	0.86[ASN][1000 genomes]
rs55971719	0.87[ASN][1000 genomes]
rs56156294	0.82[ASN][1000 genomes]
rs56365822	0.84[ASN][1000 genomes]
rs56391806	0.82[ASN][1000 genomes]
rs58020097	0.92[ASN][1000 genomes]
rs58969359	0.92[ASN][1000 genomes]
rs58978223	0.83[ASN][1000 genomes]
rs59045263	0.87[ASN][1000 genomes]
rs60042255	0.84[ASN][1000 genomes]
rs60988618	0.91[ASN][1000 genomes]
rs61303367	0.84[ASN][1000 genomes]
rs62137018	0.93[ASN][1000 genomes]
rs62137019	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62137021	0.83[ASN][1000 genomes]
rs62137041	0.94[ASN][1000 genomes]
rs6545036	0.85[CEU][hapmap]
rs66705539	0.86[ASN][1000 genomes]
rs6705802	0.83[JPT][hapmap]
rs6718068	0.83[JPT][hapmap]
rs6735288	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743757	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs6747441	0.90[ASN][1000 genomes]
rs6749773	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72820454	0.84[ASN][1000 genomes]
rs72820474	0.95[ASN][1000 genomes]
rs72820479	0.94[ASN][1000 genomes]
rs72820484	0.92[ASN][1000 genomes]
rs72820492	0.90[ASN][1000 genomes]
rs72820494	0.92[ASN][1000 genomes]
rs72820499	0.91[ASN][1000 genomes]
rs7562069	0.83[JPT][hapmap]
rs7562816	0.83[JPT][hapmap]
rs7565792	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7566239	0.83[JPT][hapmap]
rs7568574	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7577237	0.83[JPT][hapmap]
rs7579932	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs7600794	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs7606104	0.81[CEU][hapmap];0.83[JPT][hapmap]

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48628200-48640000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48632000-48634600	Enhancers	Dnd41	blood
3	chr2:48632200-48635000	Enhancers	Fetal Intestine Large	intestine
4	chr2:48632200-48635200	Enhancers	Fetal Intestine Small	intestine
5	chr2:48633600-48634600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48633600-48634600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:48633600-48634600	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:48634000-48634400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:48634000-48634600	Enhancers	Small Intestine	intestine
10	chr2:48634000-48641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:48634200-48634600	Flanking Active TSS	HepG2	liver

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