Variant report

Variant	rs6985503
Chromosome Location	chr8:119452424-119452425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10094604	0.87[ASN][1000 genomes]
rs10096317	0.89[ASN][1000 genomes]
rs10101386	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108907	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109048	0.89[ASN][1000 genomes]
rs10282819	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10283133	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955878	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955879	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955883	0.91[ASN][1000 genomes]
rs10955884	0.91[ASN][1000 genomes]
rs10955885	0.91[ASN][1000 genomes]
rs10955886	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955887	0.89[ASN][1000 genomes]
rs11773916	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773953	0.87[ASN][1000 genomes]
rs11777111	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11782499	0.91[ASN][1000 genomes]
rs11784091	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11784138	0.85[ASN][1000 genomes]
rs11991196	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11994945	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12155913	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12156430	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12544750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675551	0.89[ASN][1000 genomes]
rs12677506	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12679343	0.88[ASN][1000 genomes]
rs12679866	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12681581	0.89[ASN][1000 genomes]
rs12681600	0.88[ASN][1000 genomes]
rs13248112	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13251051	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13251354	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13251719	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13253470	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13253764	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13255144	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13260753	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13263320	0.89[ASN][1000 genomes]
rs13265657	0.89[ASN][1000 genomes]
rs4075614	0.87[ASN][1000 genomes]
rs4128894	0.90[ASN][1000 genomes]
rs4242578	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4242579	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4242580	0.89[ASN][1000 genomes]
rs4375037	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4443692	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4492409	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4493938	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4548208	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601348	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4626637	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4629902	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4631494	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876416	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4876417	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4876833	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4876835	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876836	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4876837	0.91[ASN][1000 genomes]
rs4876838	0.91[ASN][1000 genomes]
rs4876839	0.89[ASN][1000 genomes]
rs4876840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876841	0.89[ASN][1000 genomes]
rs4876842	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59298785	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61636365	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62533427	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469747	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6981538	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6982369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012582	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812733	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812880	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7813395	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825963	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826375	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826888	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830347	0.91[ASN][1000 genomes]
rs7830423	0.87[ASN][1000 genomes]
rs7831361	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7831501	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7835295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838464	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7846218	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297587	0.89[ASN][1000 genomes]
rs9642841	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643128	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643129	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643130	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9656927	0.90[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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
2	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:119449000-119453400	Enhancers	NHEK	skin
4	chr8:119449200-119452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:119449200-119475400	Weak transcription	Gastric	stomach
7	chr8:119449400-119453200	Enhancers	HMEC	breast
8	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial
11	chr8:119450200-119453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:119450400-119453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119450400-119454000	Enhancers	Osteobl	bone
14	chr8:119450600-119453400	Enhancers	HSMM	muscle
15	chr8:119450800-119452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:119450800-119453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:119450800-119453400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:119450800-119453400	Enhancers	HSMMtube	muscle
19	chr8:119450800-119454200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:119451000-119452800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:119451000-119453200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:119451000-119453400	Enhancers	NHLF	lung
23	chr8:119451200-119453000	Enhancers	Right Atrium	heart
24	chr8:119451400-119452600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:119451400-119452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:119451600-119452600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:119451600-119453200	Enhancers	Fetal Heart	heart
28	chr8:119451600-119456400	Weak transcription	GM12878-XiMat	blood
29	chr8:119451800-119452600	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:119451800-119452800	Enhancers	Fetal Lung	lung
31	chr8:119451800-119452800	Flanking Active TSS	A549	lung
32	chr8:119451800-119453200	Enhancers	Adipose Nuclei	Adipose
33	chr8:119451800-119453400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:119452000-119452600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:119452000-119452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:119452000-119452800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:119452000-119452800	Enhancers	Colon Smooth Muscle	Colon
38	chr8:119452000-119452800	Enhancers	Fetal Stomach	stomach
39	chr8:119452000-119453200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:119452000-119453400	Enhancers	Ovary	ovary
41	chr8:119452200-119452600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:119452200-119452600	Flanking Active TSS	Hela-S3	cervix
43	chr8:119452200-119452600	Flanking Active TSS	NH-A	brain
44	chr8:119452200-119452800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:119452200-119452800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:119452200-119452800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:119452200-119452800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:119452200-119453000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:119452400-119452800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:119452400-119452800	Enhancers	Aorta	Aorta

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