Variant report

Variant	rs11564150
Chromosome Location	chr12:40680917-40680918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506152	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11175766	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11564129	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11564149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11564180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs1388599	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1529376	0.80[YRI][hapmap]
rs17444089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs17466080	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466178	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466185	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466486	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs17466521	1.00[JPT][hapmap]
rs17466626	1.00[CHB][hapmap]
rs17490796	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs17490872	0.85[AFR][1000 genomes]
rs17491082	0.86[YRI][hapmap]
rs17491473	0.86[YRI][hapmap]
rs17519825	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs17519881	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17520459	0.80[YRI][hapmap]
rs2046928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2404834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs41286474	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4423250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7132073	0.94[EUR][1000 genomes]
rs73102746	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7971935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975730	0.93[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
5	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
6	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
11	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
12	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:40672800-40681000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:40674400-40760400	Weak transcription	Lung	lung
21	chr12:40676000-40684600	Strong transcription	Primary B cells from cord blood	blood
22	chr12:40676400-40683600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:40677200-40682400	Strong transcription	Adipose Nuclei	Adipose
25	chr12:40677400-40683400	Strong transcription	Liver	Liver
26	chr12:40677800-40683000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
29	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
30	chr12:40680200-40681000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:40680200-40681200	Flanking Active TSS	A549	lung
32	chr12:40680200-40682000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
34	chr12:40680400-40709000	Weak transcription	Ovary	ovary
35	chr12:40680800-40681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:40680800-40683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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