Variant report

Variant	rs2700521
Chromosome Location	chr12:75969345-75969346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1026784	0.84[CEU][hapmap]
rs10506667	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11180480	0.83[JPT][hapmap]
rs11180560	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1147995	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1147997	0.98[ASN][1000 genomes]
rs1148007	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11540407	0.91[JPT][hapmap]
rs11610328	0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11611121	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11611609	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11830640	0.94[ASN][1000 genomes]
rs12811160	0.95[ASN][1000 genomes]
rs12812559	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12819511	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12822493	0.92[CHB][hapmap];0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs12827986	0.97[ASN][1000 genomes]
rs1290026	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383100	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1501634	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs15513	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1552039	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs17217158	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17220228	0.98[ASN][1000 genomes]
rs1824981	0.90[ASN][1000 genomes]
rs2054517	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2070162	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2279244	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2306391	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs34170388	0.98[ASN][1000 genomes]
rs35708464	0.98[ASN][1000 genomes]
rs3741495	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3809118	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3847672	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847673	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56049502	0.97[ASN][1000 genomes]
rs56222143	0.98[ASN][1000 genomes]
rs61933387	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3430188	chr12:75968735-75970633	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3338872	chr12:75969135-75970233	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2700521	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs2700521	RP11-585P4.5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75965400-75977200	Weak transcription	Fetal Brain Female	brain
2	chr12:75967000-75978800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:75969000-75969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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