Variant report

Variant	rs60227368
Chromosome Location	chr12:1584765-1584766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55885871	1.00[AMR][1000 genomes]
rs59333449	1.00[EUR][1000 genomes]
rs59478425	1.00[AMR][1000 genomes]
rs73601938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601940	1.00[EUR][1000 genomes]
rs74057803	1.00[EUR][1000 genomes]
rs74059526	1.00[AMR][1000 genomes]
rs74059557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised 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
13	nsv573	chr12:1560167-1604539	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:1552800-1598000	Weak transcription	Esophagus	oesophagus
2	chr12:1558400-1599400	Weak transcription	Pancreas	Pancrea
3	chr12:1567400-1599600	Weak transcription	Gastric	stomach
4	chr12:1575200-1590000	Weak transcription	Liver	Liver
5	chr12:1579200-1598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:1579600-1600200	Weak transcription	K562	blood
7	chr12:1580600-1585400	Enhancers	HSMM	muscle
8	chr12:1581200-1585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:1581400-1586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:1581600-1585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:1581600-1587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:1581800-1584800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:1581800-1585000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:1582200-1586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:1582400-1585200	Enhancers	Fetal Heart	heart
16	chr12:1582600-1584800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:1582600-1584800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:1582600-1584800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr12:1582600-1585000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:1582600-1586400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:1583000-1584800	Enhancers	Fetal Kidney	kidney
22	chr12:1583000-1584800	Enhancers	Hela-S3	cervix
23	chr12:1583200-1584800	Flanking Active TSS	Osteobl	bone
24	chr12:1583200-1585000	Enhancers	HSMMtube	muscle
25	chr12:1583200-1597400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:1583200-1599000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:1583400-1596000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:1583400-1596200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:1583400-1599400	Weak transcription	HepG2	liver
30	chr12:1583400-1602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:1583600-1585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:1583600-1585000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:1583600-1591800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:1583600-1596200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:1583600-1597200	Weak transcription	Thymus	Thymus
36	chr12:1583800-1584800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:1583800-1584800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:1583800-1584800	Flanking Active TSS	NHDF-Ad	bronchial
39	chr12:1583800-1585000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:1583800-1596800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:1584000-1584800	Enhancers	Fetal Brain Female	brain
42	chr12:1584000-1586400	Weak transcription	Fetal Thymus	thymus
43	chr12:1584000-1598000	Weak transcription	Aorta	Aorta
44	chr12:1584000-1599200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:1584000-1599200	Weak transcription	Lung	lung
46	chr12:1584000-1599400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:1584200-1584800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:1584200-1584800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:1584200-1584800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:1584200-1584800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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