Variant report

Variant	rs12422747
Chromosome Location	chr12:1759929-1759930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1758528..1761484-chr12:1903323..1905403,2	K562	blood:
2	chr12:1758821..1762858-chr12:1765486..1772233,6	K562	blood:
3	chr12:1758373..1760405-chr12:1760521..1762073,2	K562	blood:
4	chr12:1757039..1760239-chr12:1798333..1801306,3	K562	blood:
5	chr12:1758821..1761926-chr12:1767018..1769867,3	K562	blood:

Variant related genes	Relation type
ENSG00000151062	Chromatin interaction
ENSG00000006831	Chromatin interaction
ENSG00000266043	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1859865	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010851	0.92[ASN][1000 genomes]
rs2369973	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803164	0.84[ASN][1000 genomes]
rs4766403	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6489314	0.96[ASN][1000 genomes]
rs735891	0.81[ASN][1000 genomes]
rs933361	0.83[EUR][1000 genomes]

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	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
4	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
5	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1749200-1760200	Weak transcription	Gastric	stomach
2	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
3	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:1753400-1765400	Weak transcription	Lung	lung
5	chr12:1754200-1762200	Weak transcription	Stomach Mucosa	stomach
6	chr12:1754200-1764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:1754200-1764400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
9	chr12:1754400-1763800	Weak transcription	NHEK	skin
10	chr12:1754400-1764400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:1754400-1769000	Weak transcription	HMEC	breast
12	chr12:1754600-1761400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:1755000-1760200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:1755400-1762200	Weak transcription	Spleen	Spleen
16	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
17	chr12:1756400-1761800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:1756400-1762000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:1756400-1764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:1756400-1768200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:1756600-1762000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:1756800-1761800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:1757000-1761800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:1757200-1761200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:1757200-1764400	Weak transcription	Fetal Intestine Large	intestine
26	chr12:1757600-1760000	Genic enhancers	Osteobl	bone
27	chr12:1757600-1760800	Enhancers	K562	blood
28	chr12:1757800-1760000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:1758000-1760000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:1758000-1760600	Enhancers	Right Atrium	heart
31	chr12:1758000-1761000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:1758000-1762200	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
34	chr12:1758200-1760400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1758200-1761000	Enhancers	Fetal Brain Male	brain
36	chr12:1758200-1761000	Enhancers	Left Ventricle	heart
37	chr12:1758200-1761400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:1758200-1762600	Enhancers	Colon Smooth Muscle	Colon
39	chr12:1758400-1761600	Enhancers	Fetal Stomach	stomach
40	chr12:1758400-1766200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:1758400-1770600	Weak transcription	NH-A	brain
42	chr12:1758600-1760600	Enhancers	Fetal Brain Female	brain
43	chr12:1758600-1760800	Enhancers	Brain Angular Gyrus	brain
44	chr12:1758600-1760800	Enhancers	Brain Germinal Matrix	brain
45	chr12:1758600-1760800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:1758600-1761200	Enhancers	Fetal Lung	lung
47	chr12:1758600-1761800	Weak transcription	Placenta	Placenta
48	chr12:1758600-1769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:1758800-1760000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:1758800-1760000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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