Variant report

Variant	rs12288934
Chromosome Location	chr11:73203787-73203788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10898919	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235738	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235740	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235745	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235759	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235775	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235778	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235779	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825028	1.00[ASN][1000 genomes]
rs12269884	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12274589	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12282871	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290367	0.89[ASN][1000 genomes]
rs12290835	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12293596	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328886	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825005	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56721062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57181830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57536508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59809325	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59955477	0.89[ASN][1000 genomes]
rs59991976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes]
rs60123349	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60349984	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60674215	1.00[EUR][1000 genomes]
rs60920919	0.89[ASN][1000 genomes]
rs61396858	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61613696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	0.89[ASN][1000 genomes]
rs9888198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888218	0.89[ASN][1000 genomes]
rs9971494	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv520130	chr11:73183598-73223776	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
3	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
4	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:73182000-73230000	Weak transcription	Dnd41	blood
6	chr11:73186200-73205200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:73190200-73204400	Weak transcription	Psoas Muscle	Psoas
8	chr11:73199200-73204200	Weak transcription	Primary T cells from cord blood	blood
9	chr11:73199200-73211600	Weak transcription	Stomach Mucosa	stomach
10	chr11:73199600-73205400	Weak transcription	Pancreas	Pancrea
11	chr11:73199800-73204400	Weak transcription	HepG2	liver
12	chr11:73200600-73204800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73200800-73204600	Weak transcription	Left Ventricle	heart
14	chr11:73201200-73205000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:73201400-73204800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:73201600-73204600	Weak transcription	Liver	Liver
17	chr11:73201600-73205000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:73201800-73204800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:73202000-73205200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:73202400-73204800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:73202400-73205000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:73202400-73205000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:73202400-73205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:73202400-73205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:73202400-73205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:73202600-73204800	Weak transcription	Osteobl	bone
28	chr11:73202600-73205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:73202600-73205000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:73202600-73205000	Weak transcription	Brain Germinal Matrix	brain
31	chr11:73202600-73205400	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:73202800-73204400	Weak transcription	NHDF-Ad	bronchial
33	chr11:73202800-73205000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:73203000-73204600	Weak transcription	Brain Anterior Caudate	brain
35	chr11:73203000-73205000	Weak transcription	Brain Angular Gyrus	brain
36	chr11:73203000-73205200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:73203000-73205400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:73203200-73205000	Strong transcription	Primary B cells from cord blood	blood
39	chr11:73203200-73205000	Weak transcription	Brain Substantia Nigra	brain
40	chr11:73203200-73206800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:73203400-73203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:73203400-73205000	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:73203400-73205000	Weak transcription	HSMMtube	muscle
44	chr11:73203600-73205600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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