Variant report

Variant	rs10931288
Chromosome Location	chr2:188265543-188265544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188265281..188268088-chr2:188269599..188271306,2	K562	blood:

Extended variants
information (count: 164 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10174456	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10174735	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179705	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181823	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10181845	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10191833	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10194145	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10194247	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10201618	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10203398	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10203781	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931289	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685426	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688116	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11688157	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11689123	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691442	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11894589	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11897572	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903296	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693471	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987470	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13013355	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13019491	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13024536	0.83[ASN][1000 genomes]
rs13028645	0.84[ASN][1000 genomes]
rs13409829	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13411274	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13418253	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13418561	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13424790	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13425233	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430354	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430665	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1355519	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1355520	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1398061	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528233	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528236	0.87[ASN][1000 genomes]
rs1540859	0.84[ASN][1000 genomes]
rs1609268	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1632282	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829016	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706246	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1706254	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706261	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706262	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706273	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1706276	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1728678	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1728680	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1728690	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17367055	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17464221	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17756804	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1912848	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983492	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2030976	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058670	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2203117	0.85[ASN][1000 genomes]
rs2349315	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35056802	0.84[ASN][1000 genomes]
rs35870933	0.84[ASN][1000 genomes]
rs36110670	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36146505	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771058	0.87[ASN][1000 genomes]
rs3771059	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3771061	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3771067	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771078	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821180	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821184	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140885	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667160	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59400383	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60343740	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62172532	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62172533	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434219	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719550	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67285003	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744012	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753700	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696092	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698579	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698582	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698583	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698588	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698590	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698592	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698593	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72902495	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576066	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586970	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7591567	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598858	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8176498	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8176501	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8176506	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8176525	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8176526	0.89[ASN][1000 genomes]
rs8176528	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8176541	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8176546	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8176580	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8176583	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8176592	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840564	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840567	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840569	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840570	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840571	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840572	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840574	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840576	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840577	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840578	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840583	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840584	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840585	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840586	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840587	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840588	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840589	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840590	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840591	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs840593	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840595	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840596	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840597	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs840609	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840610	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840611	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840616	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858744	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858756	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858758	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858759	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858919	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs860846	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs860859	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs861458	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs863972	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs865763	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs880890	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs907463	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288140	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10931288	CALCRL	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188256200-188268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:188256200-188268200	Weak transcription	HSMM	muscle
3	chr2:188263000-188268600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:188263400-188267200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:188264400-188265800	Strong transcription	HUVEC	blood vessel
6	chr2:188264800-188268400	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links