Variant report

Variant	rs7965993
Chromosome Location	chr12:32750470-32750471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10047581	1.00[CHB][hapmap]
rs10129039	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161053	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743799	0.95[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10743800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771965	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771966	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771967	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844249	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844250	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844251	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052090	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11052094	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.99[ASN][1000 genomes]
rs11052100	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472501	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1472502	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1909513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979824	0.90[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1979826	0.95[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2036267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291882	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291883	0.83[ASN][1000 genomes]
rs2291884	0.92[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2389102	0.89[EUR][1000 genomes]
rs2389103	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2389104	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931018	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931021	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931023	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931026	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931027	0.94[ASN][1000 genomes]
rs4931639	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931640	0.99[ASN][1000 genomes]
rs4931641	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488067	0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6488068	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488069	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs6488070	1.00[ASN][1000 genomes]
rs6488071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300661	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308071	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311621	0.82[ASN][1000 genomes]
rs7316616	1.00[ASN][1000 genomes]
rs7954226	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962088	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7964734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7968781	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968790	0.97[ASN][1000 genomes]
rs7971634	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977053	0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7979016	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904582	0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]

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:97 , 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	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
19	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
21	chr12:32735600-32754400	Weak transcription	Aorta	Aorta
22	chr12:32735800-32753800	Weak transcription	Placenta	Placenta
23	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:32736400-32754200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:32736600-32757000	Weak transcription	HepG2	liver
27	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
28	chr12:32737200-32754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:32739000-32757000	Weak transcription	Gastric	stomach
30	chr12:32739600-32754400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:32739800-32753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:32739800-32753600	Weak transcription	NH-A	brain
34	chr12:32739800-32756800	Weak transcription	NHDF-Ad	bronchial
35	chr12:32739800-32764600	Weak transcription	NHLF	lung
36	chr12:32740600-32756200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
38	chr12:32741600-32754000	Weak transcription	Brain Angular Gyrus	brain
39	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:32741800-32754000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
42	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
43	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:32743000-32754400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:32744000-32754200	Weak transcription	HMEC	breast
47	chr12:32744200-32754200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
49	chr12:32744800-32753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:32744800-32753400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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