Variant report

Variant	rs989463
Chromosome Location	chr1:221291997-221291998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10218738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10218739	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746408	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779422	0.84[EUR][1000 genomes]
rs10863580	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863582	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10863584	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863589	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118645	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11118650	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118657	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12139572	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12568940	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1417921	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442465	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1539139	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867071	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1965817	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1992480	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378435	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4359036	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4518910	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4532839	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6541171	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6541172	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541179	0.86[EUR][1000 genomes]
rs6541180	0.83[EUR][1000 genomes]
rs6656408	0.87[EUR][1000 genomes]
rs6656596	0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657690	0.89[EUR][1000 genomes]
rs6664595	0.83[EUR][1000 genomes]
rs6669742	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677416	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6694121	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6696268	0.90[EUR][1000 genomes]
rs7513152	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7527151	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7527891	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7545437	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs894361	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431421	0.89[EUR][1000 genomes]
rs9431432	0.83[EUR][1000 genomes]
rs9431436	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221289400-221292000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:221289400-221292800	Enhancers	Adipose Nuclei	Adipose
3	chr1:221289400-221293400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:221289600-221292800	Enhancers	Liver	Liver
5	chr1:221289800-221292200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:221290000-221297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:221290200-221292200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:221290400-221292200	Flanking Active TSS	A549	lung
9	chr1:221290400-221292400	Enhancers	NHDF-Ad	bronchial
10	chr1:221290400-221292600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:221290400-221292600	Enhancers	Psoas Muscle	Psoas
12	chr1:221290400-221292600	Enhancers	HSMM	muscle
13	chr1:221290400-221292800	Enhancers	NHLF	lung
14	chr1:221290600-221292000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:221290600-221292200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:221290800-221292000	Enhancers	Fetal Lung	lung
17	chr1:221290800-221292000	Weak transcription	Pancreas	Pancrea
18	chr1:221290800-221292200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:221291200-221292000	Enhancers	Brain Hippocampus Middle	brain
20	chr1:221291200-221292200	Enhancers	Brain Substantia Nigra	brain
21	chr1:221291400-221292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:221291600-221292000	Enhancers	Brain Angular Gyrus	brain
23	chr1:221291600-221292000	Flanking Active TSS	Fetal Heart	heart
24	chr1:221291600-221292200	Enhancers	Brain Anterior Caudate	brain
25	chr1:221291600-221292200	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:221291600-221292200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:221291600-221292400	Enhancers	Osteobl	bone
28	chr1:221291800-221292000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:221291800-221292000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:221291800-221292600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:221291800-221292600	Enhancers	HSMMtube	muscle

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