Variant report

Variant	rs6999062
Chromosome Location	chr8:100314854-100314855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10094807	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10098138	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10103431	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10105136	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10112186	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10113197	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808361	0.86[EUR][1000 genomes]
rs10955204	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10955206	0.87[EUR][1000 genomes]
rs11773983	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784152	0.86[EUR][1000 genomes]
rs11988987	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11989177	0.88[EUR][1000 genomes]
rs11992517	0.88[EUR][1000 genomes]
rs12056311	0.86[EUR][1000 genomes]
rs12234903	0.81[EUR][1000 genomes]
rs12549438	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12678371	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13250430	0.88[EUR][1000 genomes]
rs13250549	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13265237	0.86[AMR][1000 genomes]
rs13271726	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13275821	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1492077	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1565581	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1989645	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2029595	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2029596	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2046936	0.80[EUR][1000 genomes]
rs28617503	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3103697	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3103708	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3103709	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3103715	0.80[EUR][1000 genomes]
rs3103718	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3103719	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3103722	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3103728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3103729	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3103731	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3105167	0.80[EUR][1000 genomes]
rs3105179	0.80[EUR][1000 genomes]
rs3105182	0.82[EUR][1000 genomes]
rs3105183	0.82[EUR][1000 genomes]
rs3105184	0.82[EUR][1000 genomes]
rs3110395	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110397	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110398	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3110403	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3134159	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3134172	0.83[EUR][1000 genomes]
rs3134174	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134177	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3134178	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3134179	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134298	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3134299	0.83[EUR][1000 genomes]
rs3134302	0.80[EUR][1000 genomes]
rs3134307	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3890706	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3922710	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4338069	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4366054	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4374957	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4490802	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4517095	0.82[AMR][1000 genomes]
rs4596618	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4612311	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4734426	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4735600	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4735601	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5019794	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55893057	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58752318	0.88[EUR][1000 genomes]
rs60042922	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6468656	0.81[EUR][1000 genomes]
rs6468660	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6468661	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6468664	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6468668	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6468670	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6468673	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6468674	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6468677	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468678	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6468679	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6651157	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6988226	0.87[EUR][1000 genomes]
rs6999263	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7010581	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010582	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7011067	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7012312	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7014877	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs716454	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72670298	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72670300	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7341678	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7459833	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7460625	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7461615	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7463462	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7464318	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7464742	0.84[AMR][1000 genomes]
rs7464775	0.86[AMR][1000 genomes]
rs7465566	0.86[AMR][1000 genomes]
rs7816323	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7816673	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7816843	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7818037	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7823291	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7826207	0.86[EUR][1000 genomes]
rs7828262	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7832772	0.87[EUR][1000 genomes]
rs7832780	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7837218	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7837669	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7837937	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7844283	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297288	0.80[EUR][1000 genomes]
rs957539	0.83[EUR][1000 genomes]
rs9774546	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9792181	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv891224	chr8:100232372-100336092	Enhancers Weak transcription 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	4 gene(s)	inside rSNPs	diseases
13	nsv611811	chr8:100232372-100336447	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	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
15	nsv531506	chr8:100242477-100344417	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	nsv933457	chr8:100309191-100330433	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100292000-100315800	Weak transcription	Ovary	ovary
2	chr8:100294400-100316400	Weak transcription	Primary B cells from cord blood	blood
3	chr8:100302400-100315800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:100303200-100315800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:100305200-100318400	Weak transcription	Fetal Kidney	kidney
6	chr8:100310400-100325600	Weak transcription	Fetal Stomach	stomach
7	chr8:100313600-100315600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:100314600-100318600	Weak transcription	Fetal Lung	lung

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