Variant report

Variant	rs3794304
Chromosome Location	chr12:2163762-2163763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12422291	0.87[ASN][1000 genomes]
rs2108634	0.87[ASN][1000 genomes]
rs2299656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs58619945	0.89[ASN][1000 genomes]
rs60312080	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7301484	0.86[ASN][1000 genomes]
rs765124	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv18914	chr12:2160989-2164159	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv826184	chr12:2161268-2163795	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv557001	chr12:2161561-2164108	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv557002	chr12:2161670-2164001	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3360073	chr12:2161716-2164564	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv557004	chr12:2162033-2164108	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv557005	chr12:2162216-2164001	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv557006	chr12:2162216-2164108	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	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
23	nsv557008	chr12:2162576-2165147	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
2	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
3	chr12:2161000-2164200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:2161200-2163800	Active TSS	Right Atrium	heart
7	chr12:2161200-2164000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:2161200-2164000	Bivalent/Poised TSS	Psoas Muscle	Psoas
9	chr12:2161200-2164200	Active TSS	Brain Substantia Nigra	brain
10	chr12:2161200-2164400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr12:2161200-2165200	Active TSS	Aorta	Aorta
12	chr12:2161200-2165600	Active TSS	Brain Hippocampus Middle	brain
13	chr12:2161200-2165800	Active TSS	Right Ventricle	heart
14	chr12:2161400-2164000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:2161400-2164200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:2161400-2164200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:2161400-2164200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:2161400-2164400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:2161400-2164800	Active TSS	Left Ventricle	heart
20	chr12:2161400-2165400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:2161400-2165400	Active TSS	NHLF	lung
22	chr12:2161400-2165800	Active TSS	Colon Smooth Muscle	Colon
23	chr12:2161400-2166200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:2161600-2164000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:2161600-2164200	Active TSS	Rectal Smooth Muscle	rectum
26	chr12:2161600-2165200	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr12:2161600-2165400	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:2161600-2165600	Active TSS	Brain Anterior Caudate	brain
29	chr12:2162000-2164000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
30	chr12:2162000-2164600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr12:2162200-2163800	Bivalent/Poised TSS	Lung	lung
32	chr12:2162200-2165600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:2162400-2163800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr12:2162400-2164000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr12:2162600-2164800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr12:2162800-2163800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr12:2162800-2164000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:2162800-2164000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr12:2162800-2164000	Active TSS	Esophagus	oesophagus
40	chr12:2162800-2164000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr12:2162800-2164200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr12:2162800-2164400	Active TSS	Pancreas	Pancrea
43	chr12:2162800-2165000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:2162800-2178600	Enhancers	Fetal Heart	heart
45	chr12:2163000-2165000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr12:2163200-2163800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr12:2163400-2163800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:2163400-2163800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:2163400-2163800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:2163400-2163800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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