Variant report

Variant	rs586377
Chromosome Location	chr8:61516897-61516898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61511100..61513643-chr8:61515847..61518764,3	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10096140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10098769	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102740	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10435601	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808709	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808710	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957142	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957144	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957145	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957147	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120591	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774081	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776939	0.82[EUR][1000 genomes]
rs11777673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777706	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11995549	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996592	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678742	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680781	0.89[EUR][1000 genomes]
rs12681129	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319104	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319105	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257359	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13262390	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265543	0.87[EUR][1000 genomes]
rs13276831	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439252	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1552071	0.81[EUR][1000 genomes]
rs17814894	0.81[EUR][1000 genomes]
rs1842389	0.81[EUR][1000 genomes]
rs1893272	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1941463	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013112	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2056415	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096890	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155829	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186986	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272620	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272621	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326560	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326561	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326562	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326568	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326569	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326571	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625441	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625446	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28649594	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875967	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875968	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875973	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875974	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946154	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2981277	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735825	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735826	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3929643	0.88[EUR][1000 genomes]
rs41420549	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4403445	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4452821	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55825491	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56294255	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600811	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs615031	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs617834	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625850	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs629268	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs631408	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471885	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471886	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471888	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs652422	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659118	0.89[EUR][1000 genomes]
rs660865	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs669599	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67420552	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687978	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984378	0.80[EUR][1000 genomes]
rs6987084	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6992869	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993019	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6995515	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7000166	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001696	0.87[EUR][1000 genomes]
rs7007434	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012181	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013249	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7413	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815543	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822169	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824045	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825612	0.81[EUR][1000 genomes]
rs7827453	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829359	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830710	0.81[EUR][1000 genomes]
rs7834395	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839474	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839516	0.87[EUR][1000 genomes]
rs7842586	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9298039	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948422	0.87[EUR][1000 genomes]
rs9643523	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs586377	RP11-163N6.2	cis	Thyroid	GTEx
rs586377	RAB2A	cis	Thyroid	GTEx
rs586377	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
3	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
6	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
8	chr8:61496800-61517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:61498200-61517200	Weak transcription	Gastric	stomach
10	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
11	chr8:61503400-61517200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr8:61504000-61517000	Strong transcription	Fetal Thymus	thymus
13	chr8:61504400-61517200	Strong transcription	Adipose Nuclei	Adipose
14	chr8:61506000-61517000	Weak transcription	Esophagus	oesophagus
15	chr8:61506000-61523200	Weak transcription	Fetal Heart	heart
16	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:61506200-61517200	Weak transcription	Aorta	Aorta
18	chr8:61506200-61517200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:61506400-61532400	Weak transcription	NHLF	lung
20	chr8:61506600-61517400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:61506800-61517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:61506800-61517600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:61507600-61517400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:61508000-61521600	Weak transcription	NHEK	skin
25	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
26	chr8:61510400-61517600	Strong transcription	HSMM	muscle
27	chr8:61511800-61517000	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:61511800-61517200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:61512000-61517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:61512000-61518200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr8:61512400-61519600	Strong transcription	Osteobl	bone
32	chr8:61512400-61526200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:61512600-61517400	Strong transcription	Fetal Intestine Large	intestine
34	chr8:61512600-61518200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:61512600-61518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:61512600-61521800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:61512800-61517000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:61512800-61517400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:61512800-61517400	Strong transcription	Fetal Lung	lung
40	chr8:61512800-61517600	Strong transcription	Placenta	Placenta
41	chr8:61512800-61518000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:61512800-61518600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:61512800-61522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:61512800-61527800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:61513000-61517200	Strong transcription	Thymus	Thymus
46	chr8:61513000-61517800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:61513000-61519600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:61513000-61528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:61513400-61517400	Weak transcription	Lung	lung
50	chr8:61513600-61517400	Strong transcription	Fetal Muscle Trunk	muscle

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