Variant report

Variant	rs7964434
Chromosome Location	chr12:1761569-1761570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1758373..1760405-chr12:1760521..1762073,2	K562	blood:
2	chr12:1760029..1761750-chr12:1899014..1900987,2	K562	blood:
3	chr12:1758821..1762858-chr12:1765486..1772233,6	K562	blood:
4	chr12:1761185..1762659-chr12:1899957..1901020,13	K562	blood:
5	chr12:1760533..1762632-chr12:1798960..1801485,2	MCF-7	breast:
6	chr12:1761434..1762152-chr12:1902846..1903644,2	K562	blood:
7	chr12:1760516..1766942-chr12:1799167..1803711,7	MCF-7	breast:
8	chr12:1758821..1761926-chr12:1767018..1769867,3	K562	blood:
9	chr12:1761202..1763486-chr14:90976670..90979042,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction
ENSG00000266043	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	1.00[EUR][1000 genomes]
rs2369974	1.00[EUR][1000 genomes]
rs2370054	1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	1.00[EUR][1000 genomes]
rs6489325	1.00[EUR][1000 genomes]
rs7133749	1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7297878	1.00[EUR][1000 genomes]
rs7304843	1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758026	1.00[EUR][1000 genomes]
rs758027	1.00[EUR][1000 genomes]
rs758169	1.00[EUR][1000 genomes]
rs7957003	1.00[EUR][1000 genomes]
rs7962777	1.00[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
2	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:1753400-1765400	Weak transcription	Lung	lung
4	chr12:1754200-1762200	Weak transcription	Stomach Mucosa	stomach
5	chr12:1754200-1764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:1754200-1764400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
8	chr12:1754400-1763800	Weak transcription	NHEK	skin
9	chr12:1754400-1764400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:1754400-1769000	Weak transcription	HMEC	breast
11	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:1755400-1762200	Weak transcription	Spleen	Spleen
13	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
14	chr12:1756400-1761800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:1756400-1762000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:1756400-1764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:1756400-1768200	Weak transcription	Fetal Intestine Small	intestine
18	chr12:1756600-1762000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:1756800-1761800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:1757000-1761800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:1757200-1764400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:1758000-1762200	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
24	chr12:1758200-1762600	Enhancers	Colon Smooth Muscle	Colon
25	chr12:1758400-1761600	Enhancers	Fetal Stomach	stomach
26	chr12:1758400-1766200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:1758400-1770600	Weak transcription	NH-A	brain
28	chr12:1758600-1761800	Weak transcription	Placenta	Placenta
29	chr12:1758600-1769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:1758800-1763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1759000-1761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:1759000-1763200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:1759400-1761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:1759800-1762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:1760000-1761800	Weak transcription	Ovary	ovary
37	chr12:1760000-1762000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:1760000-1764400	Strong transcription	Osteobl	bone
39	chr12:1760000-1770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:1760200-1763200	Strong transcription	NHDF-Ad	bronchial
41	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:1760400-1761600	Strong transcription	NHLF	lung
43	chr12:1760400-1766000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:1760600-1761800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:1760600-1762400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:1760600-1762800	Enhancers	Fetal Heart	heart
47	chr12:1760600-1767400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:1760600-1767400	Weak transcription	Right Atrium	heart
49	chr12:1760600-1769400	Weak transcription	Fetal Brain Female	brain
50	chr12:1760600-1769800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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