Variant report

Variant	rs12582191
Chromosome Location	chr12:121755730-121755731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121755349..121758596-chr12:121759474..121763262,5	K562	blood:
2	chr12:121755526..121757349-chr12:121890334..121892090,2	K562	blood:
3	chr12:121755349..121757773-chr12:121759474..121762443,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12582131	0.85[ASN][1000 genomes]
rs60806586	1.00[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
4	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
6	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
4	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
5	chr12:121735800-121755800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:121735800-121755800	Weak transcription	Right Ventricle	heart
7	chr12:121735800-121756000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:121735800-121764200	Weak transcription	Fetal Heart	heart
9	chr12:121736000-121761200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:121738400-121755800	Weak transcription	Psoas Muscle	Psoas
11	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
12	chr12:121744000-121763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
14	chr12:121746600-121755800	Weak transcription	Small Intestine	intestine
15	chr12:121747400-121755800	Weak transcription	Colonic Mucosa	Colon
16	chr12:121747800-121755800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:121747800-121755800	Weak transcription	Gastric	stomach
18	chr12:121747800-121755800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:121748000-121755800	Weak transcription	Lung	lung
20	chr12:121748000-121755800	Weak transcription	HSMMtube	muscle
21	chr12:121748000-121756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:121748400-121755800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:121748400-121755800	Weak transcription	NHEK	skin
24	chr12:121748600-121755800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:121748600-121755800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:121748600-121755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:121749800-121755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:121751200-121785600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:121751400-121785800	Strong transcription	Fetal Thymus	thymus
30	chr12:121752000-121785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:121752000-121787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:121752200-121758200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:121752200-121758400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:121752200-121758400	Strong transcription	HSMM	muscle
35	chr12:121752400-121757400	Strong transcription	Dnd41	blood
36	chr12:121752400-121776000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:121752600-121755800	Weak transcription	Pancreas	Pancrea
38	chr12:121753200-121759600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:121753200-121763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:121753200-121786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:121753400-121756400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:121753400-121786000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:121753800-121757800	Strong transcription	K562	blood
44	chr12:121753800-121759800	Strong transcription	Fetal Lung	lung
45	chr12:121753800-121763600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:121753800-121775600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:121754000-121756400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr12:121754000-121756400	Strong transcription	Ovary	ovary
49	chr12:121754000-121756400	Strong transcription	NHLF	lung
50	chr12:121754000-121757000	Strong transcription	HMEC	breast

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