Variant report

Variant	rs11992217
Chromosome Location	chr8:131399536-131399537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10086454	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10086773	0.84[ASN][1000 genomes]
rs10087626	0.83[ASN][1000 genomes]
rs10090106	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10090231	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10090767	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10099549	0.87[ASN][1000 genomes]
rs10099586	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10103132	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10107054	0.82[ASN][1000 genomes]
rs10111650	0.87[ASN][1000 genomes]
rs10956520	0.85[ASN][1000 genomes]
rs10956522	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956523	0.82[ASN][1000 genomes]
rs11784638	0.84[ASN][1000 genomes]
rs11992885	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11992932	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11992957	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11993714	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11993741	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11997462	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12678030	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12678062	0.83[EUR][1000 genomes]
rs12678808	0.85[ASN][1000 genomes]
rs12680178	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12680697	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13249894	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13260346	0.89[ASN][1000 genomes]
rs13275147	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275883	0.83[ASN][1000 genomes]
rs13276168	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1340020	0.85[ASN][1000 genomes]
rs16904260	0.89[ASN][1000 genomes]
rs16904267	0.84[ASN][1000 genomes]
rs16904268	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17215817	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17287702	0.89[ASN][1000 genomes]
rs2791349	0.85[ASN][1000 genomes]
rs28545757	0.87[ASN][1000 genomes]
rs28559741	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28562521	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28707621	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28716119	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34003529	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34019017	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34188408	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34542318	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34676374	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34737610	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34987314	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35123370	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35229803	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35592532	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4574884	0.87[ASN][1000 genomes]
rs4609234	0.89[ASN][1000 genomes]
rs5027392	0.84[ASN][1000 genomes]
rs56677646	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6986119	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986163	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990443	0.89[ASN][1000 genomes]
rs7011509	0.81[EUR][1000 genomes]
rs7014098	0.89[ASN][1000 genomes]
rs7016144	0.81[EUR][1000 genomes]
rs7812299	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7812469	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7822957	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823146	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7828824	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7838650	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844582	0.85[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
6	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
10	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:131388600-131407200	Weak transcription	HSMM	muscle
12	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
17	chr8:131390000-131400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:131390400-131400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:131390400-131401000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:131390800-131401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:131390800-131401400	Weak transcription	Liver	Liver
23	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:131392200-131400200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
26	chr8:131393000-131400400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:131393000-131401000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:131394200-131408800	Weak transcription	NH-A	brain
29	chr8:131395600-131400400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
31	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:131396800-131400200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:131396800-131400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
35	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
36	chr8:131397400-131407200	Weak transcription	Ovary	ovary
37	chr8:131398200-131400800	Weak transcription	NHDF-Ad	bronchial
38	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:131398600-131400200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:131398600-131400400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:131398600-131400400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:131398800-131399600	Enhancers	NHLF	lung
45	chr8:131398800-131400800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
47	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
48	chr8:131399000-131400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:131399000-131401000	Weak transcription	Osteobl	bone
50	chr8:131399000-131404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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