Variant report

Variant	rs11062159
Chromosome Location	chr12:2326224-2326225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1006737	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10459125	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs10744559	0.84[CEU][hapmap]
rs10774030	0.87[CEU][hapmap]
rs10774032	0.80[EUR][1000 genomes]
rs10774033	0.90[CEU][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs10774034	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774035	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs10848627	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848628	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848629	0.84[CEU][hapmap]
rs10848631	0.81[EUR][1000 genomes]
rs10848632	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848633	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848634	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848635	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848636	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10848637	0.81[EUR][1000 genomes]
rs10848642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062145	0.84[CEU][hapmap]
rs11062156	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11062161	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062162	0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062166	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062170	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1108073	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108074	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108075	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108221	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108222	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315711	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12424245	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098013	0.80[EUR][1000 genomes]
rs2159100	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2190771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238046	0.81[CEU][hapmap]
rs2238049	0.86[CEU][hapmap]
rs2238050	0.88[CEU][hapmap]
rs2238052	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2238053	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2238054	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2239018	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2239019	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2239020	0.81[EUR][1000 genomes]
rs2239021	0.81[EUR][1000 genomes]
rs2239022	0.81[EUR][1000 genomes]
rs2239023	0.81[EUR][1000 genomes]
rs2239024	0.81[EUR][1000 genomes]
rs2239025	0.81[EUR][1000 genomes]
rs2239026	0.81[EUR][1000 genomes]
rs2239027	0.81[EUR][1000 genomes]
rs2283287	0.87[CEU][hapmap]
rs2283288	0.87[CEU][hapmap]
rs3922316	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765669	0.81[EUR][1000 genomes]
rs4765670	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4765902	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4765904	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765905	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7133502	0.80[EUR][1000 genomes]
rs758170	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs758171	0.81[CEU][hapmap]
rs758172	0.81[EUR][1000 genomes]
rs758173	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs758174	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs769087	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7957545	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs7965923	0.89[ASN][1000 genomes]

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	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv898605	chr12:2252924-2327944	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2301400-2328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:2320400-2335800	Weak transcription	NHLF	lung
3	chr12:2320600-2328000	Weak transcription	Aorta	Aorta
4	chr12:2320800-2331400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:2323000-2327200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:2323200-2340200	Enhancers	Fetal Heart	heart
7	chr12:2323400-2327200	Weak transcription	Fetal Lung	lung
8	chr12:2323400-2328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:2323600-2336000	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:2323800-2326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:2323800-2338800	Weak transcription	Spleen	Spleen
12	chr12:2324400-2326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:2324800-2327400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:2325400-2327200	Weak transcription	Right Atrium	heart
15	chr12:2325400-2328600	Weak transcription	Fetal Stomach	stomach
16	chr12:2325400-2329800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:2325400-2330400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:2325600-2327000	Weak transcription	Right Ventricle	heart
19	chr12:2325800-2327200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:2325800-2334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:2326000-2334600	Weak transcription	Osteobl	bone
22	chr12:2326200-2326600	Weak transcription	Left Ventricle	heart

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