Variant report

Variant	rs2068485
Chromosome Location	chr12:1868527-1868528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10735003	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs10773982	0.87[ASN][1000 genomes]
rs10773986	0.87[ASN][1000 genomes]
rs10773988	0.85[CEU][hapmap]
rs10773989	0.89[CEU][hapmap];0.92[ASN][1000 genomes]
rs10773991	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs10848550	0.88[CEU][hapmap]
rs10848557	0.85[CEU][hapmap]
rs10848558	0.87[ASN][1000 genomes]
rs10848567	0.88[EUR][1000 genomes]
rs10848569	0.92[ASN][1000 genomes]
rs10848571	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11061919	0.83[ASN][1000 genomes]
rs11061923	0.81[ASN][1000 genomes]
rs11061937	0.85[ASN][1000 genomes]
rs11061940	0.86[ASN][1000 genomes]
rs11061968	0.93[ASN][1000 genomes]
rs11061971	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11061974	0.93[ASN][1000 genomes]
rs11614639	0.96[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316367	0.87[CEU][hapmap]
rs12342	0.89[ASN][1000 genomes]
rs12812707	0.93[ASN][1000 genomes]
rs12813694	0.93[ASN][1000 genomes]
rs12828908	0.93[ASN][1000 genomes]
rs12831353	0.93[ASN][1000 genomes]
rs2068491	0.88[EUR][1000 genomes]
rs2108642	0.89[EUR][1000 genomes]
rs2190556	0.87[EUR][1000 genomes]
rs2240613	0.89[ASN][1000 genomes]
rs2286383	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2286384	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2286385	0.89[ASN][1000 genomes]
rs3759374	0.96[EUR][1000 genomes]
rs3809266	0.89[ASN][1000 genomes]
rs4765843	0.88[EUR][1000 genomes]
rs4765844	0.87[EUR][1000 genomes]
rs4766415	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs6489326	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs7138924	0.84[CEU][hapmap]
rs7294668	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7313760	0.93[ASN][1000 genomes]
rs7955261	0.88[CEU][hapmap]
rs7974422	0.96[EUR][1000 genomes]
rs7974924	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7976827	0.87[EUR][1000 genomes]
rs7978362	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7978783	0.84[EUR][1000 genomes]
rs7978818	0.86[ASN][1000 genomes]
rs929434	0.92[ASN][1000 genomes]
rs9300298	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9739162	0.81[CEU][hapmap]
rs9805049	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	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
6	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1038425	chr12:1857052-1902302	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
6	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
7	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
10	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
11	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
12	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
13	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:1858400-1869800	Weak transcription	NHDF-Ad	bronchial
18	chr12:1860400-1869600	Weak transcription	K562	blood
19	chr12:1861600-1869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
21	chr12:1862600-1874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:1863200-1869600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:1863200-1869600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:1863400-1868600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:1863400-1869000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:1863400-1869400	Strong transcription	NHEK	skin
28	chr12:1863400-1869600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:1863400-1870200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:1863400-1871400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:1863400-1871400	Strong transcription	GM12878-XiMat	blood
32	chr12:1863400-1871400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:1863400-1872600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:1864800-1879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:1864800-1882200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:1865600-1869800	Strong transcription	Primary T cells from cord blood	blood
39	chr12:1865800-1870000	Strong transcription	Primary B cells from cord blood	blood
40	chr12:1865800-1871400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:1866000-1871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:1866400-1869200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:1866400-1869400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:1866800-1871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:1866800-1875000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:1866800-1883000	Weak transcription	Fetal Heart	heart
47	chr12:1867000-1869000	Enhancers	Fetal Lung	lung
48	chr12:1867000-1871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:1867000-1882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:1867000-1882000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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