Variant report

Variant	rs74057124
Chromosome Location	chr12:1428736-1428737
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	chr12:1428172..1430846-chr12:1431367..1432976,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10400459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928350	1.00[AMR][1000 genomes]
rs55705296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55734408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56262248	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601086	0.98[AFR][1000 genomes]
rs61061257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299789	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057116	1.00[AMR][1000 genomes]
rs74057119	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057143	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057151	0.98[AFR][1000 genomes]
rs74057152	0.85[AFR][1000 genomes]
rs74057175	0.91[AFR][1000 genomes]
rs74057178	0.93[AFR][1000 genomes]
rs74057181	0.93[AFR][1000 genomes]
rs74057182	0.93[AFR][1000 genomes]
rs74057183	0.93[AFR][1000 genomes]
rs74057184	0.93[AFR][1000 genomes]
rs74057187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7953630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7967663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970718	1.00[AMR][1000 genomes]
rs7979057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9668524	0.93[AFR][1000 genomes]
rs9668608	0.93[AFR][1000 genomes]
rs9943851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
2	chr12:1387600-1441400	Weak transcription	HepG2	liver
3	chr12:1391200-1434000	Weak transcription	A549	lung
4	chr12:1404800-1442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:1413800-1447600	Weak transcription	Gastric	stomach
6	chr12:1416200-1434400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:1416400-1434000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:1420200-1440600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:1423000-1435400	Weak transcription	Fetal Thymus	thymus
10	chr12:1424400-1432200	Weak transcription	Primary B cells from cord blood	blood
11	chr12:1424400-1433400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:1424800-1442200	Weak transcription	Fetal Stomach	stomach
13	chr12:1426800-1429000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:1427400-1428800	Enhancers	Adipose Nuclei	Adipose
15	chr12:1427400-1428800	Enhancers	HSMM	muscle
16	chr12:1427600-1428800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:1427600-1428800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:1427600-1428800	Enhancers	Fetal Kidney	kidney
19	chr12:1427800-1428800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:1427800-1429200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:1428000-1428800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:1428000-1429000	Enhancers	Fetal Lung	lung
23	chr12:1428000-1442200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:1428000-1447600	Weak transcription	Ovary	ovary
25	chr12:1428200-1428800	Enhancers	Liver	Liver
26	chr12:1428200-1429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:1428200-1433200	Weak transcription	K562	blood
28	chr12:1428200-1434000	Weak transcription	Small Intestine	intestine
29	chr12:1428200-1441600	Weak transcription	Pancreas	Pancrea
30	chr12:1428200-1442800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:1428200-1443200	Weak transcription	Fetal Brain Female	brain
32	chr12:1428200-1447600	Weak transcription	Left Ventricle	heart
33	chr12:1428200-1448800	Weak transcription	Psoas Muscle	Psoas
34	chr12:1428200-1449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:1428200-1449000	Weak transcription	Aorta	Aorta
36	chr12:1428200-1455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:1428400-1429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:1428400-1429000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr12:1428400-1429000	Enhancers	NHDF-Ad	bronchial
41	chr12:1428400-1429000	Enhancers	Osteobl	bone
42	chr12:1428400-1429200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:1428400-1429200	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:1428400-1432800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:1428400-1433000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:1428400-1433000	Weak transcription	Fetal Brain Male	brain
47	chr12:1428400-1436400	Weak transcription	Fetal Heart	heart
48	chr12:1428400-1438800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:1428400-1438800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:1428400-1440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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