Variant report

Variant	rs1472502
Chromosome Location	chr12:32744118-32744119
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32739278..32740962-chr12:32742875..32745661,2	K562	blood:
2	chr12:32738492..32740640-chr12:32742992..32745754,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10047581	0.92[CHB][hapmap]
rs10129039	0.83[ASN][1000 genomes]
rs10129043	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs10161053	0.82[ASN][1000 genomes]
rs10743799	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10743800	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10771964	0.91[EUR][1000 genomes]
rs10771965	0.99[ASN][1000 genomes]
rs10771966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10771967	1.00[ASN][1000 genomes]
rs10844249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10844250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10844251	0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs11052090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11052094	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11052100	0.82[ASN][1000 genomes]
rs1472501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909513	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1979824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1979826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2036267	0.93[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2291882	0.99[ASN][1000 genomes]
rs2291883	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291884	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389102	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2389103	1.00[ASN][1000 genomes]
rs2389104	1.00[ASN][1000 genomes]
rs4931018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4931021	1.00[ASN][1000 genomes]
rs4931023	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931026	0.83[ASN][1000 genomes]
rs4931027	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931639	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931640	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488069	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488070	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488071	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7136686	0.92[EUR][1000 genomes]
rs7300661	0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs7308071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311621	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315971	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316616	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954226	0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7962088	1.00[ASN][1000 genomes]
rs7964734	0.93[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965993	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7968781	0.82[ASN][1000 genomes]
rs7968790	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7971634	0.98[ASN][1000 genomes]
rs7977053	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979016	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs904582	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9988998	0.85[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
4	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
8	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
12	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
15	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:32731800-32753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:32732400-32744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
20	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
22	chr12:32735600-32744600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:32735600-32754400	Weak transcription	Aorta	Aorta
24	chr12:32735800-32753800	Weak transcription	Placenta	Placenta
25	chr12:32736200-32746400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:32736400-32744400	Weak transcription	Pancreas	Pancrea
28	chr12:32736400-32754200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:32736600-32744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:32736600-32747000	Weak transcription	Ovary	ovary
32	chr12:32736600-32757000	Weak transcription	HepG2	liver
33	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
34	chr12:32737200-32754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:32738800-32744400	Weak transcription	Fetal Stomach	stomach
36	chr12:32738800-32744800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:32739000-32744400	Weak transcription	Lung	lung
38	chr12:32739000-32747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:32739000-32757000	Weak transcription	Gastric	stomach
40	chr12:32739600-32754400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:32739800-32744200	Weak transcription	HSMMtube	muscle
43	chr12:32739800-32747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32739800-32753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:32739800-32753600	Weak transcription	NH-A	brain
46	chr12:32739800-32756800	Weak transcription	NHDF-Ad	bronchial
47	chr12:32739800-32764600	Weak transcription	NHLF	lung
48	chr12:32740200-32746800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:32740600-32744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:32740600-32744800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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