Variant report

Variant	rs941207
Chromosome Location	chr12:57023284-57023285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
2	chr12:56996744..56998793-chr12:57023200..57025186,2	MCF-7	breast:
3	chr12:57005351..57008593-chr12:57022462..57024744,3	MCF-7	breast:
4	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
5	chr12:57022708..57024363-chr12:57079075..57081851,2	K562	blood:
6	chr12:57022393..57025472-chr12:57080099..57082971,5	MCF-7	breast:
7	chr12:57022927..57025378-chr12:57037788..57040266,3	K562	blood:
8	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
9	chr12:57022390..57024526-chr12:57480119..57483489,4	MCF-7	breast:
10	chr12:57006171..57009899-chr12:57021383..57024124,3	K562	blood:
11	chr12:57021547..57023887-chr12:57480286..57482599,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1020848	0.94[ASN][1000 genomes]
rs10450	0.90[JPT][hapmap]
rs10747769	0.89[ASN][1000 genomes]
rs10783794	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10876913	0.92[ASN][1000 genomes]
rs10876914	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876915	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876916	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1107479	0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11171914	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11171916	0.94[ASN][1000 genomes]
rs11171917	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171951	0.86[CHB][hapmap]
rs11835120	0.94[ASN][1000 genomes]
rs11837319	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229457	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1465081	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466382	0.86[CHB][hapmap]
rs1563896	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1563897	0.81[ASN][1000 genomes]
rs1962963	0.82[ASN][1000 genomes]
rs1979325	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs2255074	0.93[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2256341	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290893	0.93[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2290894	0.87[CHB][hapmap]
rs2926740	0.94[ASN][1000 genomes]
rs2926741	0.87[CHB][hapmap]
rs2926743	0.86[CHB][hapmap]
rs2950387	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2950388	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2950389	0.95[JPT][hapmap]
rs2950390	0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2950393	0.94[ASN][1000 genomes]
rs2950394	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958123	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2958124	0.95[ASN][1000 genomes]
rs2958127	0.86[CHB][hapmap]
rs2958130	0.86[CHB][hapmap]
rs2958139	0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2958145	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958146	0.94[ASN][1000 genomes]
rs2958153	0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2958154	0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2958155	0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3214051	0.86[CHB][hapmap]
rs36012661	0.94[ASN][1000 genomes]
rs4759028	0.85[ASN][1000 genomes]
rs4759254	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs67046307	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297289	0.87[ASN][1000 genomes]
rs7303216	0.87[ASN][1000 genomes]
rs7313074	0.86[CHB][hapmap]
rs7315472	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337030	0.94[ASN][1000 genomes]
rs7967600	0.86[CHB][hapmap]
rs7972420	0.90[ASN][1000 genomes]
rs7973157	0.94[ASN][1000 genomes]
rs7973618	0.82[ASN][1000 genomes]
rs7975783	0.88[ASN][1000 genomes]
rs7978685	0.86[CHB][hapmap]
rs7980317	0.86[CHB][hapmap]
rs7980378	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980835	0.91[ASN][1000 genomes]
rs898609	0.87[CHB][hapmap]
rs898611	0.86[CHB][hapmap]
rs9634246	0.93[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634247	0.92[ASN][1000 genomes]
rs9634277	0.92[ASN][1000 genomes]
rs9989034	0.93[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Platelet counts	22139419	GWAS catalog

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57022000-57023400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:57022000-57023400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr12:57022000-57023400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:57022000-57024200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:57022000-57024200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:57022000-57024200	Active TSS	HSMMtube	muscle
7	chr12:57022000-57024200	Active TSS	NHDF-Ad	bronchial
8	chr12:57022000-57024600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:57022200-57023400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:57022200-57024200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:57022200-57024200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:57022200-57024200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:57022200-57024200	Active TSS	Colonic Mucosa	Colon
14	chr12:57022200-57024200	Active TSS	Fetal Muscle Trunk	muscle
15	chr12:57022200-57024200	Active TSS	Left Ventricle	heart
16	chr12:57022200-57024200	Active TSS	Right Ventricle	heart
17	chr12:57022200-57024400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:57022200-57024400	Active TSS	Ovary	ovary
19	chr12:57022400-57024000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:57022400-57024200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:57022400-57024200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:57022400-57024200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:57022400-57024200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:57022400-57024200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:57022400-57024200	Active TSS	Gastric	stomach
26	chr12:57022400-57024200	Active TSS	Lung	lung
27	chr12:57022400-57024200	Active TSS	Pancreas	Pancrea
28	chr12:57022400-57024200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr12:57022400-57024200	Active TSS	GM12878-XiMat	blood
30	chr12:57022400-57024400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:57022400-57024400	Active TSS	Aorta	Aorta
32	chr12:57022400-57024600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:57022600-57023600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:57022600-57023600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:57022600-57023600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:57022600-57023600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:57022600-57023800	Bivalent/Poised TSS	HepG2	liver
38	chr12:57022600-57024000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:57022600-57024000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:57022600-57024000	Active TSS	Stomach Mucosa	stomach
41	chr12:57022600-57024200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr12:57022600-57024200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:57022600-57024200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:57022600-57024200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:57022600-57024200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr12:57022600-57024200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:57022600-57024200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:57022600-57024200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:57022600-57024200	Active TSS	Primary B cells from peripheral blood	blood
50	chr12:57022600-57024200	Active TSS	Primary T cells fromperipheralblood	blood

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