Variant report

Variant	rs7138317
Chromosome Location	chr12:104650271-104650272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104647499..104652832-chr12:104679215..104682822,7	K562	blood:
2	chr12:104648960..104654527-chr12:104679132..104682678,7	MCF-7	breast:
3	chr12:104643341..104646270-chr12:104650257..104651835,2	MCF-7	breast:
4	chr12:104648718..104651563-chr12:104680805..104682351,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10400561	0.83[ASN][1000 genomes]
rs10507174	0.83[CEU][hapmap]
rs10735392	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10735393	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10735395	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10745994	0.80[ASN][1000 genomes]
rs10745995	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10745996	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778310	0.82[ASN][1000 genomes]
rs10861178	0.82[AMR][1000 genomes]
rs10861204	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11111919	1.00[AFR][1000 genomes]
rs11111943	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111955	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17035324	0.87[ASN][1000 genomes]
rs17202862	0.85[CEU][hapmap];1.00[AFR][1000 genomes]
rs3935020	1.00[AFR][1000 genomes]
rs4129598	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4246264	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4246269	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4246270	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4246271	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4388968	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4447242	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4502051	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4545635	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4614534	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs4630362	0.92[CEU][hapmap];1.00[AFR][1000 genomes]
rs4964227	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs4964228	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs4964257	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964260	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964270	1.00[ASN][1000 genomes]
rs4964271	0.96[ASN][1000 genomes]
rs4964288	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4964627	0.93[CEU][hapmap];0.80[AMR][1000 genomes]
rs4964632	0.80[AMR][1000 genomes]
rs4964727	0.86[EUR][1000 genomes]
rs4964729	0.85[EUR][1000 genomes]
rs4964732	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4964741	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964752	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964761	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4964779	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4964784	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6419386	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6539128	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6539131	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6539137	0.91[CEU][hapmap];1.00[AFR][1000 genomes]
rs7132418	0.93[CEU][hapmap];0.87[AMR][1000 genomes]
rs7138035	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7139336	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7294997	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295413	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298613	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7299669	1.00[AFR][1000 genomes]
rs7299866	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs7303483	0.81[AMR][1000 genomes]
rs7305872	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73177977	1.00[AFR][1000 genomes]
rs73177980	1.00[AFR][1000 genomes]
rs73177982	1.00[AFR][1000 genomes]
rs73177990	1.00[AFR][1000 genomes]
rs73181916	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73181919	1.00[AFR][1000 genomes]
rs73181926	1.00[AFR][1000 genomes]
rs73181944	1.00[AFR][1000 genomes]
rs7957725	0.93[CEU][hapmap]
rs7958851	0.95[ASN][1000 genomes]
rs7962423	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7969351	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7969604	1.00[AFR][1000 genomes]
rs7972034	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7975161	0.96[ASN][1000 genomes]
rs7978101	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9738614	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9739826	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9739833	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104649800-104650400	Flanking Active TSS	Hela-S3	cervix
2	chr12:104649800-104657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:104650200-104650400	Enhancers	Stomach Mucosa	stomach
4	chr12:104650200-104650600	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links