Variant report

Variant	rs6994417
Chromosome Location	chr8:49104844-49104845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10086138	0.88[AFR][1000 genomes]
rs10086728	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10095363	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10099232	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10099601	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10103627	0.85[AFR][1000 genomes]
rs10104502	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10105954	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10107062	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10107500	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10107531	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10109229	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10110043	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10112655	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10216490	0.89[AMR][1000 genomes]
rs10958493	0.80[AFR][1000 genomes]
rs10958494	0.93[YRI][hapmap]
rs11778279	0.83[AFR][1000 genomes]
rs11781426	0.81[AFR][1000 genomes]
rs11783647	0.88[AFR][1000 genomes]
rs11783734	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12544623	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12708172	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12708173	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12708174	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13248162	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13250861	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13251473	0.87[AMR][1000 genomes]
rs13252104	0.87[AFR][1000 genomes]
rs13263949	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13265298	0.88[AFR][1000 genomes]
rs13270721	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13276357	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13277100	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13281542	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28421609	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28459674	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28489005	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28539823	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28678298	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28678847	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34075137	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34172095	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34568428	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34608684	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34850099	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35040443	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35088698	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35578152	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35637385	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35748311	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs36004689	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3923232	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3934732	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3934733	0.86[AFR][1000 genomes]
rs3934734	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4130803	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4242483	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242484	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242485	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4263791	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4329299	0.84[AFR][1000 genomes]
rs4373544	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375031	0.87[AFR][1000 genomes]
rs4380968	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4397430	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4475511	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4489344	0.82[AFR][1000 genomes]
rs4526384	0.84[AFR][1000 genomes]
rs4527898	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4531079	0.81[AFR][1000 genomes]
rs4534147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4543570	0.84[AMR][1000 genomes]
rs4610781	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4639551	0.81[AFR][1000 genomes]
rs4873271	0.80[AFR][1000 genomes]
rs4873781	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873782	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873783	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873784	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873785	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873788	0.93[YRI][hapmap]
rs56683733	0.83[AMR][1000 genomes]
rs60275259	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61146557	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6474074	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986825	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6990698	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6994790	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6998272	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7004442	0.80[ASN][1000 genomes]
rs7004828	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7009463	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7011426	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7014393	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73571663	0.82[AMR][1000 genomes]
rs7815183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820720	0.87[AFR][1000 genomes]
rs7822672	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7827365	0.87[AMR][1000 genomes]
rs7831644	0.87[AMR][1000 genomes]
rs7838513	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9657169	0.93[AFR][1000 genomes]
rs9792196	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9792312	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9792353	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1841988	chr8:49093467-49156411	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49101800-49110400	Weak transcription	Ovary	ovary
2	chr8:49103800-49105000	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:49104200-49105200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:49104200-49105400	Enhancers	Brain Substantia Nigra	brain
5	chr8:49104200-49115400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:49104400-49105000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:49104400-49105200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:49104400-49105200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:49104400-49105200	Enhancers	Brain Hippocampus Middle	brain
10	chr8:49104400-49105400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:49104400-49105400	Enhancers	Osteobl	bone
12	chr8:49104600-49105000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49104600-49105000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:49104600-49105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:49104600-49105000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:49104600-49105000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr8:49104600-49105000	Enhancers	Fetal Stomach	stomach
18	chr8:49104600-49105200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:49104600-49105200	Enhancers	HMEC	breast
20	chr8:49104600-49105200	Enhancers	HSMM	muscle
21	chr8:49104600-49105200	Enhancers	NH-A	brain
22	chr8:49104600-49105200	Enhancers	NHEK	skin
23	chr8:49104600-49105200	Enhancers	NHLF	lung
24	chr8:49104600-49105400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:49104600-49105400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:49104600-49105400	Enhancers	NHDF-Ad	bronchial
27	chr8:49104800-49105000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:49104800-49105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:49104800-49105000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:49104800-49105000	Flanking Active TSS	Stomach Mucosa	stomach
31	chr8:49104800-49105000	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:49104800-49105200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:49104800-49105200	Active TSS	Brain Anterior Caudate	brain
34	chr8:49104800-49105600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:49104800-49106400	Enhancers	Spleen	Spleen

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