Variant report

Variant	rs6486215
Chromosome Location	chr11:9239800-9239801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10770000	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10770001	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10770002	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10770003	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10770004	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10840196	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042227	0.93[ASN][1000 genomes]
rs11042245	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042252	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11608172	0.88[ASN][1000 genomes]
rs12289113	0.93[ASN][1000 genomes]
rs12295767	0.89[ASN][1000 genomes]
rs12296016	0.94[ASN][1000 genomes]
rs12420463	0.86[ASN][1000 genomes]
rs12577661	0.88[ASN][1000 genomes]
rs2873069	0.92[ASN][1000 genomes]
rs34729888	0.93[ASN][1000 genomes]
rs35686957	0.84[EUR][1000 genomes]
rs35757766	0.86[ASN][1000 genomes]
rs35955530	0.88[ASN][1000 genomes]
rs4447178	0.83[EUR][1000 genomes]
rs61877814	0.93[ASN][1000 genomes]
rs61877916	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6486210	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6486226	0.93[ASN][1000 genomes]
rs6486231	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7101432	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7104221	0.94[ASN][1000 genomes]
rs7109911	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7112540	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7114688	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115062	0.93[ASN][1000 genomes]
rs7123342	0.84[EUR][1000 genomes]
rs71476818	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7358313	0.81[EUR][1000 genomes]
rs7396439	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7482630	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7924664	0.93[ASN][1000 genomes]
rs7933448	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941520	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952508	0.82[EUR][1000 genomes]
rs952374	0.88[ASN][1000 genomes]
rs9736263	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9888193	0.88[ASN][1000 genomes]
rs9888229	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
2	chr11:9226000-9241200	Weak transcription	Aorta	Aorta
3	chr11:9226000-9252000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:9227400-9250400	Weak transcription	Fetal Stomach	stomach
6	chr11:9227600-9250600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:9231200-9241200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:9231400-9250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:9233000-9241000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:9233000-9241200	Weak transcription	HSMM	muscle
13	chr11:9233000-9244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:9233000-9248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:9233800-9249400	Weak transcription	Pancreas	Pancrea
16	chr11:9235800-9240800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:9236000-9252200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:9236400-9240600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:9236800-9240800	Weak transcription	NH-A	brain
20	chr11:9236800-9241000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:9236800-9250800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:9237000-9240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:9237000-9240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:9237000-9240600	Weak transcription	Osteobl	bone
25	chr11:9237000-9240800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:9237000-9240800	Weak transcription	HUVEC	blood vessel
27	chr11:9237000-9241000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:9237000-9241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:9237000-9241000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:9237000-9241200	Weak transcription	NHDF-Ad	bronchial
31	chr11:9237000-9241400	Weak transcription	NHEK	skin
32	chr11:9237000-9244200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:9237000-9247000	Weak transcription	Right Ventricle	heart
34	chr11:9237000-9249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:9237000-9249800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:9237000-9249800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:9237000-9249800	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:9237000-9250000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:9237000-9250200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:9237000-9252200	Weak transcription	NHLF	lung
41	chr11:9237000-9252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:9237200-9240000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:9237200-9240000	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:9237200-9240600	Weak transcription	Hela-S3	cervix
46	chr11:9237200-9240800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:9237200-9240800	Weak transcription	HMEC	breast
48	chr11:9237200-9241000	Weak transcription	Brain Anterior Caudate	brain
49	chr11:9237200-9251600	Weak transcription	Primary B cells from cord blood	blood
50	chr11:9237400-9252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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