Variant report

Variant	rs12612539
Chromosome Location	chr2:152620607-152620608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152614524..152619932-chr2:152620577..152626819,11	K562	blood:
2	chr2:152620276..152622701-chr2:152638245..152641528,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10189865	1.00[EUR][1000 genomes]
rs1022388	1.00[EUR][1000 genomes]
rs10930834	1.00[EUR][1000 genomes]
rs12612655	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12618365	0.85[ASN][1000 genomes]
rs12619249	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12621850	1.00[EUR][1000 genomes]
rs12623646	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13025115	1.00[EUR][1000 genomes]
rs13030833	1.00[EUR][1000 genomes]
rs13413290	1.00[EUR][1000 genomes]
rs1356734	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1401779	1.00[EUR][1000 genomes]
rs1519705	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1519706	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1519707	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16830140	1.00[EUR][1000 genomes]
rs16830170	1.00[EUR][1000 genomes]
rs16830173	1.00[EUR][1000 genomes]
rs16830174	1.00[EUR][1000 genomes]
rs16830189	1.00[EUR][1000 genomes]
rs16830216	1.00[EUR][1000 genomes]
rs16830236	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1980227	1.00[EUR][1000 genomes]
rs2176739	1.00[EUR][1000 genomes]
rs2460440	1.00[EUR][1000 genomes]
rs35967764	1.00[EUR][1000 genomes]
rs41525550	1.00[EUR][1000 genomes]
rs4549085	1.00[EUR][1000 genomes]
rs4603764	1.00[EUR][1000 genomes]
rs59471708	1.00[EUR][1000 genomes]
rs6730990	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569133	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608502	0.89[ASN][1000 genomes]
rs939238	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:152611600-152622600	Enhancers	K562	blood
3	chr2:152612000-152622200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:152614600-152622000	Weak transcription	Fetal Lung	lung
5	chr2:152614600-152622200	Weak transcription	Left Ventricle	heart
6	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
7	chr2:152615000-152622400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:152615400-152622400	Weak transcription	Lung	lung
9	chr2:152615600-152623000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:152616800-152621400	Weak transcription	Fetal Stomach	stomach
11	chr2:152616800-152622200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:152617000-152622200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:152617000-152622400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:152617000-152622400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:152617000-152623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:152617000-152632600	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:152617000-152638000	Weak transcription	Esophagus	oesophagus
20	chr2:152617000-152669400	Weak transcription	Gastric	stomach
21	chr2:152617200-152621200	Weak transcription	Primary T cells from cord blood	blood
22	chr2:152617200-152622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:152617200-152622200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:152617200-152622200	Weak transcription	Right Atrium	heart
25	chr2:152617200-152622400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:152617200-152622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:152617200-152622600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:152617200-152622800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:152618200-152622200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:152618200-152631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:152618400-152625200	Strong transcription	Aorta	Aorta
32	chr2:152618800-152622400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:152618800-152623000	Weak transcription	HepG2	liver
34	chr2:152619000-152622200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
36	chr2:152619200-152623200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:152619400-152622200	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:152619800-152621800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:152619800-152623200	Strong transcription	Placenta	Placenta
40	chr2:152619800-152623200	Weak transcription	NHDF-Ad	bronchial
41	chr2:152619800-152635800	Weak transcription	Fetal Brain Female	brain
42	chr2:152620000-152623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:152620200-152620800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:152620200-152621200	Enhancers	Psoas Muscle	Psoas
45	chr2:152620200-152622800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:152620200-152623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:152620200-152623200	Weak transcription	HSMMtube	muscle
48	chr2:152620200-152632000	Enhancers	Primary B cells from cord blood	blood
49	chr2:152620400-152621200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:152620400-152622000	Strong transcription	Fetal Muscle Leg	muscle

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