Variant report

Variant	rs4766249
Chromosome Location	chr12:1329170-1329171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1323691..1326096-chr12:1328110..1330887,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10161285	0.89[ASN][1000 genomes]
rs1017019	0.91[ASN][1000 genomes]
rs10848452	0.85[ASN][1000 genomes]
rs11061677	0.85[ASN][1000 genomes]
rs11061679	0.85[ASN][1000 genomes]
rs11061682	0.85[ASN][1000 genomes]
rs11061691	0.80[ASN][1000 genomes]
rs11835033	0.91[ASN][1000 genomes]
rs11837033	0.85[ASN][1000 genomes]
rs11837972	0.88[ASN][1000 genomes]
rs12302807	0.83[ASN][1000 genomes]
rs12426509	0.91[ASN][1000 genomes]
rs1544425	0.91[ASN][1000 genomes]
rs17800876	0.87[ASN][1000 genomes]
rs2189788	0.85[ASN][1000 genomes]
rs2286037	0.86[ASN][1000 genomes]
rs56742512	0.85[ASN][1000 genomes]
rs57027936	0.86[ASN][1000 genomes]
rs57389981	0.87[ASN][1000 genomes]
rs58159804	0.91[ASN][1000 genomes]
rs58545225	0.86[ASN][1000 genomes]
rs60257878	0.94[ASN][1000 genomes]
rs61623983	0.85[ASN][1000 genomes]
rs61911966	0.94[ASN][1000 genomes]
rs61911969	0.94[ASN][1000 genomes]
rs61911972	0.94[ASN][1000 genomes]
rs61911976	0.89[ASN][1000 genomes]
rs61911977	0.89[ASN][1000 genomes]
rs61911978	0.89[ASN][1000 genomes]
rs61911983	0.86[ASN][1000 genomes]
rs61911984	0.86[ASN][1000 genomes]
rs61912026	0.86[ASN][1000 genomes]
rs61914332	0.88[ASN][1000 genomes]
rs6489270	0.88[ASN][1000 genomes]
rs6489273	0.85[ASN][1000 genomes]
rs6489276	0.86[ASN][1000 genomes]
rs6489277	0.85[ASN][1000 genomes]
rs7133150	0.84[ASN][1000 genomes]
rs7137058	0.85[ASN][1000 genomes]
rs7137563	0.85[ASN][1000 genomes]
rs7299878	0.85[ASN][1000 genomes]
rs7303756	0.84[ASN][1000 genomes]
rs7303850	0.88[ASN][1000 genomes]
rs7306130	0.86[ASN][1000 genomes]
rs7311531	0.85[ASN][1000 genomes]
rs7315544	0.94[ASN][1000 genomes]
rs7954213	0.85[ASN][1000 genomes]
rs7958662	0.84[ASN][1000 genomes]
rs7968223	0.80[ASN][1000 genomes]
rs7971670	0.94[ASN][1000 genomes]
rs7976337	0.91[ASN][1000 genomes]
rs7980065	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980582	0.91[ASN][1000 genomes]
rs979335	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 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	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv1036488	chr12:1041097-1445923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	33 gene(s)	inside rSNPs	diseases
15	nsv1037825	chr12:1045734-1432940	Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv541342	chr12:1045734-1432940	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv868854	chr12:1045935-1354083	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	nsv1039826	chr12:1259831-1483326	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv930996	chr12:1270113-1473328	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv524525	chr12:1272363-1366511	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	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
29	nsv898582	chr12:1286841-1416592	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1839295	chr12:1305357-1372114	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	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
32	nsv519502	chr12:1314430-1366511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1308200-1329800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:1308600-1329800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:1314600-1346200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:1315000-1341200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:1315000-1345800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:1315400-1345800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:1316800-1366200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:1320600-1330000	Weak transcription	Placenta	Placenta
9	chr12:1323600-1331200	Enhancers	Fetal Heart	heart
10	chr12:1325000-1329400	Weak transcription	Fetal Brain Female	brain
11	chr12:1326200-1346800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:1326600-1329200	Weak transcription	A549	lung
13	chr12:1327000-1329400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:1327000-1329600	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:1327000-1340800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:1327200-1329600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:1327200-1330000	Weak transcription	Esophagus	oesophagus
18	chr12:1327200-1346000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:1327200-1346000	Weak transcription	NHDF-Ad	bronchial
20	chr12:1327200-1391200	Weak transcription	Aorta	Aorta
21	chr12:1327400-1329200	Weak transcription	HSMMtube	muscle
22	chr12:1327400-1345800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:1327400-1346000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:1327600-1329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:1327600-1329400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:1327600-1329400	Weak transcription	Small Intestine	intestine
27	chr12:1327600-1329800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:1327600-1330000	Weak transcription	Psoas Muscle	Psoas
29	chr12:1327600-1330400	Enhancers	Hela-S3	cervix
30	chr12:1327600-1331800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:1327600-1332600	Weak transcription	Fetal Kidney	kidney
32	chr12:1327600-1337000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:1327600-1342800	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:1327600-1345800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1327600-1345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:1327600-1346200	Weak transcription	HMEC	breast
37	chr12:1327600-1352400	Weak transcription	HSMM	muscle
38	chr12:1327600-1354200	Weak transcription	Osteobl	bone
39	chr12:1327800-1329200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:1327800-1329200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:1327800-1330000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:1327800-1332400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:1327800-1348400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:1328000-1329400	Weak transcription	NHEK	skin
45	chr12:1328000-1329800	Weak transcription	Adipose Nuclei	Adipose
46	chr12:1328000-1346000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:1328000-1359200	Weak transcription	HUVEC	blood vessel
48	chr12:1328600-1330200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:1328600-1330200	Enhancers	Right Ventricle	heart
50	chr12:1328600-1330600	Enhancers	Stomach Mucosa	stomach

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