Variant report

Variant	rs12269916
Chromosome Location	chr11:36183297-36183298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1014357	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs10836513	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10836514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033473	0.90[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11033476	0.87[ASN][1000 genomes]
rs11033477	0.87[ASN][1000 genomes]
rs11033478	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11499817	0.85[ASN][1000 genomes]
rs12278757	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12282945	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12417496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12420381	0.87[ASN][1000 genomes]
rs12575549	0.85[ASN][1000 genomes]
rs12576371	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs16926221	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs35567395	0.90[ASN][1000 genomes]
rs4612777	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[MEX][hapmap];0.92[ASN][1000 genomes]
rs4755439	0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs4756291	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756292	0.87[ASN][1000 genomes]
rs59459290	0.86[ASN][1000 genomes]
rs6416082	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6416083	0.87[ASN][1000 genomes]
rs7117510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121939	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935599	0.87[ASN][1000 genomes]
rs72935601	0.87[ASN][1000 genomes]
rs7929112	0.97[ASN][1000 genomes]
rs7933303	0.92[ASN][1000 genomes]
rs7943467	0.85[ASN][1000 genomes]
rs7943612	0.92[ASN][1000 genomes]
rs7948709	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7951966	0.90[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36171400-36184000	Weak transcription	Right Atrium	heart
2	chr11:36171600-36187800	Weak transcription	Spleen	Spleen
3	chr11:36172000-36184000	Weak transcription	Pancreas	Pancrea
4	chr11:36172000-36184200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:36172600-36183400	Weak transcription	Hela-S3	cervix
6	chr11:36172600-36190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:36175000-36184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:36175200-36183800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:36175600-36184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:36175600-36184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:36176600-36184000	Weak transcription	Right Ventricle	heart
12	chr11:36178000-36184000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:36178200-36186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:36178200-36187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:36178400-36183800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:36178600-36184000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:36178800-36184000	Weak transcription	Brain Substantia Nigra	brain
18	chr11:36179000-36183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:36179000-36183800	Weak transcription	Adipose Nuclei	Adipose
20	chr11:36179000-36184400	Weak transcription	Brain Angular Gyrus	brain
21	chr11:36179200-36183400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:36179200-36183800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:36179200-36183800	Weak transcription	NHLF	lung
24	chr11:36179200-36185600	Weak transcription	NHEK	skin
25	chr11:36179400-36184000	Weak transcription	Left Ventricle	heart
26	chr11:36179400-36184000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:36179400-36184000	Weak transcription	NHDF-Ad	bronchial
28	chr11:36179400-36185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:36179400-36185800	Weak transcription	HSMM	muscle
30	chr11:36179600-36184000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:36179600-36184000	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:36179600-36184600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:36179800-36184000	Weak transcription	Brain Anterior Caudate	brain
35	chr11:36179800-36184600	Weak transcription	HUVEC	blood vessel
36	chr11:36180400-36183600	Enhancers	Brain Germinal Matrix	brain
37	chr11:36181200-36183800	Enhancers	Fetal Brain Female	brain
38	chr11:36181200-36187800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:36181200-36188000	Enhancers	Fetal Lung	lung
40	chr11:36181400-36183400	Enhancers	Fetal Brain Male	brain
41	chr11:36181400-36186400	Enhancers	Fetal Muscle Leg	muscle
42	chr11:36181800-36183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:36181800-36183800	Weak transcription	Placenta	Placenta
44	chr11:36181800-36184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:36181800-36184000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:36181800-36185600	Weak transcription	Lung	lung
47	chr11:36182000-36183800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:36182200-36183800	Weak transcription	Fetal Kidney	kidney
49	chr11:36182600-36184000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:36182600-36184600	Enhancers	Psoas Muscle	Psoas

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