Variant report

Variant	rs11836547
Chromosome Location	chr12:1886447-1886448
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1805243..1808157-chr12:1884262..1886640,2	MCF-7	breast:
2	chr12:1884779..1887439-chr12:1888065..1890449,2	K562	blood:
3	chr12:1875185..1877560-chr12:1885723..1887474,2	MCF-7	breast:
4	chr12:1799342..1802388-chr12:1883886..1887202,3	MCF-7	breast:
5	chr12:1881087..1883067-chr12:1886344..1888819,2	K562	blood:
6	chr12:1874405..1877121-chr12:1883509..1886504,3	MCF-7	breast:
7	chr12:1885828..1887529-chr12:1888844..1891201,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction
ENSG00000271500	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10734999	1.00[CHB][hapmap]
rs10744548	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10773979	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10848554	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10848568	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11834426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12370189	0.85[CHB][hapmap]
rs2215097	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34903315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57292054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59240557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60552340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518726	0.97[ASN][1000 genomes]
rs7134070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311218	1.00[CHB][hapmap]
rs74059364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488369	1.00[CHB][hapmap]
rs767870	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7961845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9740036	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805042	1.00[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
3	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
4	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
7	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
10	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:1868400-1887000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:1870200-1892600	Weak transcription	Ovary	ovary
15	chr12:1878600-1897800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:1880600-1888400	Weak transcription	Fetal Stomach	stomach
18	chr12:1880600-1892200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:1880600-1892200	Weak transcription	Gastric	stomach
20	chr12:1880600-1892200	Weak transcription	Lung	lung
21	chr12:1880600-1894600	Weak transcription	Esophagus	oesophagus
22	chr12:1881200-1889000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:1881600-1897400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:1881600-1897600	Strong transcription	Dnd41	blood
25	chr12:1881600-1897800	Strong transcription	Fetal Thymus	thymus
26	chr12:1882000-1889000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:1882000-1898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:1882400-1893000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:1882400-1896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:1882600-1886800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:1882600-1888200	Weak transcription	Thymus	Thymus
32	chr12:1882600-1888400	Weak transcription	Fetal Lung	lung
33	chr12:1882600-1889000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
35	chr12:1883000-1886800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:1883200-1889200	Enhancers	NHDF-Ad	bronchial
37	chr12:1883200-1889600	Weak transcription	Placenta	Placenta
38	chr12:1883400-1889200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:1883400-1890000	Enhancers	Brain Anterior Caudate	brain
40	chr12:1883800-1886800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:1883800-1887000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:1883800-1888000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:1883800-1888800	Weak transcription	Brain Germinal Matrix	brain
44	chr12:1884000-1886800	Enhancers	Brain Substantia Nigra	brain
45	chr12:1884000-1887200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:1884000-1888200	Enhancers	Brain Hippocampus Middle	brain
47	chr12:1884800-1887000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:1885000-1887200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:1885000-1887600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:1885000-1887600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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