Variant report

Variant	rs3105167
Chromosome Location	chr8:100392968-100392969
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1039448	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10955207	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955208	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955213	0.81[AMR][1000 genomes]
rs10955215	0.83[AMR][1000 genomes]
rs11986595	0.82[AMR][1000 genomes]
rs12234903	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542214	0.83[AMR][1000 genomes]
rs12550617	0.84[AMR][1000 genomes]
rs12676009	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12681244	0.83[AMR][1000 genomes]
rs1492077	0.80[EUR][1000 genomes]
rs1565581	0.82[EUR][1000 genomes]
rs2029595	0.82[EUR][1000 genomes]
rs2029596	0.82[EUR][1000 genomes]
rs2046936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3103102	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3103697	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3103702	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3103708	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3103709	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3103713	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3103715	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3103716	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3103718	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3103719	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3103722	0.86[EUR][1000 genomes]
rs3103728	0.84[EUR][1000 genomes]
rs3103729	0.83[EUR][1000 genomes]
rs3103731	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3105178	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105179	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105180	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3105182	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105183	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105184	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3105188	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105189	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105196	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105197	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105200	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3105202	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3110395	0.84[EUR][1000 genomes]
rs3110397	0.82[EUR][1000 genomes]
rs3110398	0.82[EUR][1000 genomes]
rs3110403	0.82[EUR][1000 genomes]
rs3110407	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3110408	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3134147	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134149	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3134151	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3134153	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3134154	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3134157	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3134159	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134160	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3134165	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3134169	0.83[AMR][1000 genomes]
rs3134170	0.84[AMR][1000 genomes]
rs3134172	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134174	0.83[EUR][1000 genomes]
rs3134177	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3134178	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3134179	0.82[EUR][1000 genomes]
rs3134186	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134187	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134298	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134299	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134302	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134304	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134307	0.84[EUR][1000 genomes]
rs34237216	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735615	0.84[AMR][1000 genomes]
rs4735619	0.84[AMR][1000 genomes]
rs4735620	0.84[AMR][1000 genomes]
rs56174158	0.84[AMR][1000 genomes]
rs6468678	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6468679	0.80[EUR][1000 genomes]
rs6468690	0.84[AMR][1000 genomes]
rs6999062	0.80[EUR][1000 genomes]
rs7010581	0.84[EUR][1000 genomes]
rs716454	0.86[EUR][1000 genomes]
rs717365	0.84[AMR][1000 genomes]
rs72674642	0.81[AMR][1000 genomes]
rs72674644	0.84[AMR][1000 genomes]
rs72674651	0.84[AMR][1000 genomes]
rs7823291	0.82[EUR][1000 genomes]
rs7828262	0.84[EUR][1000 genomes]
rs7844283	0.84[EUR][1000 genomes]
rs957539	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965657	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
20	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
22	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
23	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100367800-100403800	Weak transcription	Ovary	ovary
2	chr8:100379800-100403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:100384400-100437600	Weak transcription	Lung	lung
4	chr8:100385800-100403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
6	chr8:100386800-100408400	Weak transcription	Small Intestine	intestine
7	chr8:100387400-100403800	Weak transcription	Left Ventricle	heart
8	chr8:100388400-100398800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:100388600-100393400	Weak transcription	Fetal Kidney	kidney
10	chr8:100389800-100393200	Weak transcription	Liver	Liver
11	chr8:100389800-100418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:100390000-100393200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:100390000-100403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:100390000-100405600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:100390000-100405800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:100390000-100405800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:100390000-100421200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:100390200-100393600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:100390200-100414000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:100390200-100415800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:100390400-100396400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:100390400-100421200	Weak transcription	Aorta	Aorta
23	chr8:100391000-100428000	Weak transcription	Pancreas	Pancrea
24	chr8:100391400-100393200	Weak transcription	Primary B cells from cord blood	blood
25	chr8:100391400-100393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:100391400-100399000	Weak transcription	Thymus	Thymus
27	chr8:100391400-100403800	Weak transcription	Fetal Lung	lung
28	chr8:100391400-100405800	Weak transcription	Gastric	stomach
29	chr8:100391400-100419800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:100391400-100430200	Weak transcription	Brain Angular Gyrus	brain
31	chr8:100391600-100396200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:100391600-100396200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:100391600-100399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:100392400-100403800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:100392600-100394200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr8:100392800-100393000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:100392800-100394400	ZNF genes & repeats	Primary T cells from cord blood	blood

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