Variant report

Variant	rs56706235
Chromosome Location	chr12:1508166-1508167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10128898	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306442	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58235708	0.84[ASN][1000 genomes]
rs6489283	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489285	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132825	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301869	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026462	0.87[ASN][1000 genomes]
rs73038684	0.87[ASN][1000 genomes]
rs73038686	0.87[ASN][1000 genomes]
rs73040872	0.87[ASN][1000 genomes]
rs73040878	0.87[ASN][1000 genomes]
rs73040880	0.87[ASN][1000 genomes]
rs73040881	0.87[ASN][1000 genomes]
rs73040882	0.87[ASN][1000 genomes]
rs73040896	0.87[ASN][1000 genomes]
rs7305331	0.87[ASN][1000 genomes]
rs7958646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970589	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978960	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	29 gene(s)	inside rSNPs	diseases
9	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active 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
12	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
13	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
14	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
16	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
20	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
23	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
25	nsv1039488	chr12:1486636-1567275	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1478400-1520400	Weak transcription	Pancreas	Pancrea
2	chr12:1481400-1520000	Weak transcription	Thymus	Thymus
3	chr12:1486200-1518400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:1486800-1530400	Weak transcription	Fetal Lung	lung
5	chr12:1489800-1510800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:1489800-1517600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:1489800-1517800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:1492000-1512200	Weak transcription	Fetal Heart	heart
9	chr12:1492400-1531200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:1493200-1517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:1494400-1513800	Weak transcription	Liver	Liver
12	chr12:1496600-1509400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr12:1498400-1529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:1500600-1518200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:1500800-1517800	Weak transcription	HSMMtube	muscle
16	chr12:1500800-1518200	Weak transcription	HSMM	muscle
17	chr12:1500800-1527200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:1500800-1528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:1501000-1517600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:1501000-1517800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:1501000-1517800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:1501000-1517800	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:1501000-1529800	Weak transcription	Gastric	stomach
24	chr12:1501200-1517600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:1501200-1517800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:1501200-1519600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:1501200-1520000	Weak transcription	Fetal Stomach	stomach
28	chr12:1501200-1530400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:1501200-1544400	Weak transcription	Right Ventricle	heart
30	chr12:1501400-1512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:1501400-1516800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:1501400-1517000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:1501400-1517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1501400-1517800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:1501400-1518000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:1501400-1518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:1501400-1518200	Weak transcription	Fetal Intestine Large	intestine
38	chr12:1501400-1520000	Weak transcription	NHEK	skin
39	chr12:1501400-1530400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:1501400-1530400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:1501600-1517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:1501600-1521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:1501600-1522400	Weak transcription	Brain Angular Gyrus	brain
44	chr12:1501600-1523200	Weak transcription	Fetal Intestine Small	intestine
45	chr12:1501600-1529800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:1501600-1530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:1501800-1530400	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:1504000-1517600	Weak transcription	Left Ventricle	heart
49	chr12:1504000-1528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:1504400-1517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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