Variant report

Variant	rs73691572
Chromosome Location	chr8:67660460-67660461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11985572	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987280	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988465	0.84[ASN][1000 genomes]
rs11990461	0.92[EUR][1000 genomes]
rs11990636	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992069	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995256	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995814	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996861	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997967	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998301	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114202	0.84[ASN][1000 genomes]
rs12114734	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16933034	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933039	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933057	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933060	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933079	0.92[EUR][1000 genomes]
rs16933080	0.92[EUR][1000 genomes]
rs16933138	0.84[ASN][1000 genomes]
rs28547325	0.84[ASN][1000 genomes]
rs35517376	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35809374	0.87[EUR][1000 genomes]
rs3779995	0.87[EUR][1000 genomes]
rs3857962	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913346	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3929419	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613982	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893527	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056216	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215867	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345609	0.97[EUR][1000 genomes]
rs57894537	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58434561	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58653469	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991268	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59226286	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59469156	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60666237	0.87[EUR][1000 genomes]
rs60741740	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60773515	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61080934	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61085456	0.90[EUR][1000 genomes]
rs6472285	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472289	0.92[EUR][1000 genomes]
rs6651278	0.92[EUR][1000 genomes]
rs6981761	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982137	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982699	0.87[EUR][1000 genomes]
rs6983632	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	0.92[EUR][1000 genomes]
rs6984650	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985273	0.92[EUR][1000 genomes]
rs6998252	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998777	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002183	0.82[ASN][1000 genomes]
rs7002479	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015619	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017471	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691182	0.84[ASN][1000 genomes]
rs73691557	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691562	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691565	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691571	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691578	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691579	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691582	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691586	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691595	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693615	0.87[EUR][1000 genomes]
rs73693631	0.92[EUR][1000 genomes]
rs73693632	0.92[EUR][1000 genomes]
rs7815142	0.92[EUR][1000 genomes]
rs7815863	0.87[EUR][1000 genomes]
rs7820403	0.92[EUR][1000 genomes]
rs7824775	0.84[ASN][1000 genomes]
rs7842770	0.87[EUR][1000 genomes]
rs979679	0.87[EUR][1000 genomes]
rs9918866	0.85[AMR][1000 genomes]
rs9918869	0.92[AFR][1000 genomes];0.91[AMR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3419701	chr8:67655998-67660496	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67626200-67664400	Weak transcription	Ovary	ovary
2	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
3	chr8:67626800-67660600	Weak transcription	HSMMtube	muscle
4	chr8:67627200-67665600	Weak transcription	Left Ventricle	heart
5	chr8:67632600-67662400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:67638600-67660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:67639600-67664400	Weak transcription	Thymus	Thymus
8	chr8:67641200-67666200	Weak transcription	Pancreas	Pancrea
9	chr8:67647800-67671000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:67650800-67660600	Weak transcription	Brain Substantia Nigra	brain
11	chr8:67651400-67663000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:67651600-67664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:67652200-67672400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:67652400-67664200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:67652600-67664000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:67654800-67661200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:67656400-67679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:67656600-67670400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:67657000-67662800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:67658400-67663000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:67658400-67663400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:67658800-67662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:67658800-67663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:67659000-67660800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:67659200-67661000	Enhancers	Brain Hippocampus Middle	brain
26	chr8:67659400-67661000	Enhancers	Brain Anterior Caudate	brain
27	chr8:67659400-67661400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:67659600-67661000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:67659600-67661000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:67659600-67661200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:67659600-67661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:67659800-67661000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:67659800-67661000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:67659800-67661000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:67659800-67661000	Enhancers	Colon Smooth Muscle	Colon
36	chr8:67659800-67661000	Enhancers	HMEC	breast
37	chr8:67660000-67660800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:67660000-67661000	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:67660000-67661000	Enhancers	Osteobl	bone
40	chr8:67660200-67660800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:67660200-67660800	Enhancers	Brain Angular Gyrus	brain
42	chr8:67660200-67661000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:67660200-67661000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:67660200-67661000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:67660200-67661000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:67660200-67661000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:67660200-67661000	Enhancers	Aorta	Aorta
48	chr8:67660200-67661000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:67660200-67661000	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:67660400-67660600	Enhancers	Brain Cingulate Gyrus	brain

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