Variant report

Variant	rs59731311
Chromosome Location	chr12:1691773-1691774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1226889..1227794-chr12:1691636..1693148,4	K562	blood:
2	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
3	chr12:1690585..1692934-chr12:1917638..1919676,2	K562	blood:
4	chr12:1690515..1695848-chr12:1701447..1705019,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11837673	0.89[ASN][1000 genomes]
rs35466364	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73030985	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	16 gene(s)	inside rSNPs	diseases
6	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:1673000-1692600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:1674400-1692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:1675000-1692000	Weak transcription	HSMM	muscle
4	chr12:1675800-1692600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
6	chr12:1680800-1692400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
8	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
9	chr12:1685600-1695000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
11	chr12:1685800-1692600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
13	chr12:1686000-1692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:1686000-1693000	Enhancers	NHDF-Ad	bronchial
15	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
16	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:1686400-1693000	Weak transcription	Colonic Mucosa	Colon
18	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
20	chr12:1686600-1692400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:1686600-1692400	Enhancers	Osteobl	bone
22	chr12:1686600-1692600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:1686600-1692600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
25	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:1687000-1692000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:1687000-1692400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:1687000-1692400	Weak transcription	Right Atrium	heart
29	chr12:1687000-1692400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:1687000-1693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
32	chr12:1687000-1699600	Weak transcription	Ovary	ovary
33	chr12:1687200-1692600	Weak transcription	Liver	Liver
34	chr12:1687200-1695000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:1687400-1692400	Weak transcription	Fetal Intestine Large	intestine
36	chr12:1687800-1692600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:1688400-1692400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:1688800-1695400	Weak transcription	Primary B cells from cord blood	blood
39	chr12:1689200-1691800	Enhancers	Placenta	Placenta
40	chr12:1689800-1692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:1690000-1692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:1690200-1691800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:1690200-1692400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:1690200-1697000	Weak transcription	Brain Germinal Matrix	brain
45	chr12:1690400-1692600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:1690400-1701000	Weak transcription	Gastric	stomach
47	chr12:1690600-1692400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:1690600-1692600	Enhancers	Adipose Nuclei	Adipose
49	chr12:1690600-1692600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:1690600-1693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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