Variant report

Variant	rs10743800
Chromosome Location	chr12:32758226-32758227
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	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10161053	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743799	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10771965	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771966	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771967	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844249	0.95[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844250	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844251	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052090	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11052094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11052100	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472501	0.90[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472502	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1909513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979824	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs1979826	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2036267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291882	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291883	0.83[ASN][1000 genomes]
rs2291884	0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2389102	0.89[EUR][1000 genomes]
rs2389103	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2389104	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931018	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931021	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931023	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931026	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931027	0.93[ASN][1000 genomes]
rs4931639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931640	1.00[ASN][1000 genomes]
rs4931641	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488067	0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs6488068	0.90[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6488070	0.99[ASN][1000 genomes]
rs6488071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300661	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	0.81[ASN][1000 genomes]
rs7316616	0.99[ASN][1000 genomes]
rs7954226	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962088	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7965993	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]
rs7968781	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968790	0.98[ASN][1000 genomes]
rs7971634	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7977053	0.92[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7979016	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]
rs904582	0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[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:101 , 50 per page) page: 1 2 3

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	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
9	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
11	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
12	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
14	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:32739800-32764600	Weak transcription	NHLF	lung
18	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
19	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
21	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
22	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
25	chr12:32744800-32762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32744800-32765000	Weak transcription	Brain Substantia Nigra	brain
27	chr12:32745000-32764400	Weak transcription	Lung	lung
28	chr12:32747200-32760600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:32749000-32764200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:32749000-32764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:32750000-32762200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:32750000-32765000	Strong transcription	Adipose Nuclei	Adipose
33	chr12:32750000-32770400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:32752000-32762000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:32753000-32774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
37	chr12:32754600-32766800	Weak transcription	NH-A	brain
38	chr12:32754800-32764600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:32755000-32760000	Weak transcription	Aorta	Aorta
40	chr12:32755000-32760200	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:32755000-32762000	Weak transcription	Left Ventricle	heart
42	chr12:32755000-32764800	Weak transcription	Colonic Mucosa	Colon
43	chr12:32755000-32775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:32755200-32762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:32755400-32760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:32755400-32760800	Weak transcription	Fetal Brain Female	brain
47	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:32755600-32759400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:32755600-32764400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:32755600-32764600	Weak transcription	Brain Hippocampus Middle	brain

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