Variant report

Variant	rs60312080
Chromosome Location	chr12:2165336-2165337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12422291	0.92[ASN][1000 genomes]
rs2108634	0.92[ASN][1000 genomes]
rs2299656	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3794304	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4765879	0.87[EUR][1000 genomes]
rs4765880	0.84[EUR][1000 genomes]
rs58619945	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59149107	0.87[EUR][1000 genomes]
rs60208923	0.87[EUR][1000 genomes]
rs61174808	0.87[EUR][1000 genomes]
rs7301484	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765124	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv557007	chr12:2162369-2165956	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
2	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:2161200-2165600	Active TSS	Brain Hippocampus Middle	brain
5	chr12:2161200-2165800	Active TSS	Right Ventricle	heart
6	chr12:2161400-2165400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:2161400-2165400	Active TSS	NHLF	lung
8	chr12:2161400-2165800	Active TSS	Colon Smooth Muscle	Colon
9	chr12:2161400-2166200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:2161600-2165400	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:2161600-2165600	Active TSS	Brain Anterior Caudate	brain
12	chr12:2162200-2165600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:2162800-2178600	Enhancers	Fetal Heart	heart
14	chr12:2163600-2165400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:2163600-2168600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr12:2164000-2165400	Weak transcription	Gastric	stomach
17	chr12:2164000-2165800	Enhancers	Spleen	Spleen
18	chr12:2164200-2165600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr12:2164200-2167200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:2164400-2167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:2164400-2173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:2164600-2165400	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:2164600-2166400	Weak transcription	Ovary	ovary
24	chr12:2164800-2166400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr12:2165000-2165400	Flanking Active TSS	Right Atrium	heart
26	chr12:2165000-2165600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:2165000-2166800	Enhancers	NHDF-Ad	bronchial
28	chr12:2165000-2178000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:2165200-2165400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:2165200-2165400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:2165200-2165400	Enhancers	Aorta	Aorta
32	chr12:2165200-2165400	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr12:2165200-2165400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
34	chr12:2165200-2165400	Flanking Active TSS	Left Ventricle	heart
35	chr12:2165200-2165400	Enhancers	Pancreas	Pancrea
36	chr12:2165200-2165400	Enhancers	Osteobl	bone
37	chr12:2165200-2166200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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