Variant report

Variant	rs2111710
Chromosome Location	chr2:186475590-186475591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1010838	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1010839	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10165430	0.92[EUR][1000 genomes]
rs10185794	0.85[EUR][1000 genomes]
rs10188730	0.90[EUR][1000 genomes]
rs1019429	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10490390	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10490391	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10490392	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10803994	0.82[ASN][1000 genomes]
rs10931190	0.90[ASN][1000 genomes]
rs10931194	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1119051	0.81[ASN][1000 genomes]
rs11688628	0.87[EUR][1000 genomes]
rs11695263	0.81[ASN][1000 genomes]
rs11696052	0.92[EUR][1000 genomes]
rs11883784	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11884004	0.82[ASN][1000 genomes]
rs11884071	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs11893212	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894788	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11903585	0.82[ASN][1000 genomes]
rs12053506	0.82[ASN][1000 genomes]
rs12464911	0.85[EUR][1000 genomes]
rs12615117	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615448	0.84[EUR][1000 genomes]
rs12618129	0.82[ASN][1000 genomes]
rs12618572	0.84[EUR][1000 genomes]
rs12620977	0.91[ASN][1000 genomes]
rs12992042	0.83[EUR][1000 genomes]
rs1544710	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544711	0.82[ASN][1000 genomes]
rs1544712	0.82[ASN][1000 genomes]
rs1544713	0.82[ASN][1000 genomes]
rs16827054	0.89[ASN][1000 genomes]
rs16827102	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16827202	0.83[ASN][1000 genomes]
rs17228146	0.82[ASN][1000 genomes]
rs17228441	0.82[ASN][1000 genomes]
rs17228483	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs17229201	0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs17813736	0.82[ASN][1000 genomes]
rs17814545	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1986166	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2193611	0.92[ASN][1000 genomes]
rs2193612	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2193821	0.84[ASN][1000 genomes]
rs2370396	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370400	0.92[ASN][1000 genomes]
rs2370476	0.82[ASN][1000 genomes]
rs2887761	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2887762	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs3821022	0.89[ASN][1000 genomes]
rs4017080	0.85[EUR][1000 genomes]
rs4334457	0.89[ASN][1000 genomes]
rs4473352	0.93[EUR][1000 genomes]
rs4547499	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4667042	0.90[EUR][1000 genomes]
rs55730501	0.82[ASN][1000 genomes]
rs55856163	0.82[ASN][1000 genomes]
rs58762332	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59321838	0.90[ASN][1000 genomes]
rs61751900	0.81[EUR][1000 genomes]
rs6434131	0.87[EUR][1000 genomes]
rs6434141	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6705390	0.82[ASN][1000 genomes]
rs6705753	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6732973	0.82[ASN][1000 genomes]
rs6733690	0.81[ASN][1000 genomes]
rs6743632	0.85[EUR][1000 genomes]
rs6746722	0.81[ASN][1000 genomes]
rs6749812	0.89[EUR][1000 genomes]
rs6753731	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6758929	0.89[ASN][1000 genomes]
rs6759616	0.82[ASN][1000 genomes]
rs67690898	0.82[ASN][1000 genomes]
rs72898038	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73035511	0.89[ASN][1000 genomes]
rs73978688	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73978689	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7424780	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7562137	0.81[ASN][1000 genomes]
rs7566166	0.82[ASN][1000 genomes]
rs7566901	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs7570524	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7570827	0.82[ASN][1000 genomes]
rs7574766	0.82[ASN][1000 genomes]
rs7575226	0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7577283	0.90[EUR][1000 genomes]
rs7584637	0.81[ASN][1000 genomes]
rs7584776	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7587203	0.82[ASN][1000 genomes]
rs7587685	0.82[ASN][1000 genomes]
rs7591127	0.90[EUR][1000 genomes]
rs7592890	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs759686	0.90[EUR][1000 genomes]
rs759687	0.90[EUR][1000 genomes]
rs7604780	0.93[EUR][1000 genomes]
rs7605519	0.88[ASN][1000 genomes]
rs7607532	1.00[ASN][1000 genomes]
rs9646802	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459982	chr2:186213755-186475590	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv584012	chr2:186213755-186475590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875527	chr2:186272059-186475590	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875528	chr2:186301351-186475590	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004048	chr2:186303297-186541503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875530	chr2:186303530-186475590	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875531	chr2:186303530-186489537	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875534	chr2:186309738-186475590	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv875536	chr2:186309738-186504175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875539	chr2:186345148-186475590	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1006219	chr2:186352780-186524793	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv584017	chr2:186352959-186515328	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv916442	chr2:186356363-186534152	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875543	chr2:186365918-186489537	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1000814	chr2:186391490-186520872	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1000561	chr2:186450293-186556017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1004422	chr2:186463915-186556017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv962123	chr2:186472846-186477099	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2111710	AC007966.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2111710	AC007966.1	cis	lung	GTEx
rs2111710	AC007966.1	cis	Stomach	GTEx
rs2111710	AC007966.1	cis	Heart Left Ventricle	GTEx
rs2111710	AC007966.1	cis	Adipose Subcutaneous	GTEx
rs2111710	AC007966.1	cis	Thyroid	GTEx
rs2111710	AC007966.1	cis	Nerve Tibial	GTEx
rs2111710	AC007966.1	cis	Esophagus Muscularis	GTEx
rs2111710	AC007966.1	cis	Artery Aorta	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186473600-186483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186475000-186476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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