Variant report

Variant	rs2163124
Chromosome Location	chr8:107058862-107058863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107047054..107052420-chr8:107054763..107060033,4	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10086055	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092927	0.91[ASN][1000 genomes]
rs1032545	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505091	0.91[ASN][1000 genomes]
rs10808408	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10955407	0.99[ASN][1000 genomes]
rs10955408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955409	0.99[ASN][1000 genomes]
rs10955412	0.88[EUR][1000 genomes]
rs11781234	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11781331	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11782609	0.91[ASN][1000 genomes]
rs11786829	0.99[ASN][1000 genomes]
rs11985873	0.81[EUR][1000 genomes]
rs12542361	0.92[ASN][1000 genomes]
rs12546875	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674846	0.93[ASN][1000 genomes]
rs12675478	0.87[ASN][1000 genomes]
rs12677927	0.97[ASN][1000 genomes]
rs12680670	0.93[ASN][1000 genomes]
rs12681183	0.93[ASN][1000 genomes]
rs13277300	0.84[ASN][1000 genomes]
rs13439705	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1353450	0.99[ASN][1000 genomes]
rs1429681	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496180	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496181	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496182	0.99[ASN][1000 genomes]
rs1496183	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603357	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1603363	0.99[ASN][1000 genomes]
rs16873989	0.91[ASN][1000 genomes]
rs1817939	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835267	0.99[ASN][1000 genomes]
rs1835268	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2029878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029879	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029880	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029881	0.92[ASN][1000 genomes]
rs2029882	0.99[ASN][1000 genomes]
rs2059943	0.96[ASN][1000 genomes]
rs2115703	0.99[ASN][1000 genomes]
rs2132471	0.92[ASN][1000 genomes]
rs2172997	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2217391	0.98[ASN][1000 genomes]
rs2345068	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2345070	0.94[ASN][1000 genomes]
rs34177605	0.98[ASN][1000 genomes]
rs34872724	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416800	0.92[ASN][1000 genomes]
rs4734126	0.91[ASN][1000 genomes]
rs4734128	0.99[ASN][1000 genomes]
rs4734892	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734893	0.92[ASN][1000 genomes]
rs4734894	0.92[ASN][1000 genomes]
rs4734895	0.92[ASN][1000 genomes]
rs55639043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55729609	0.99[ASN][1000 genomes]
rs55762012	0.99[ASN][1000 genomes]
rs55811614	0.91[ASN][1000 genomes]
rs56352125	0.99[ASN][1000 genomes]
rs56402027	0.99[ASN][1000 genomes]
rs57607757	0.91[ASN][1000 genomes]
rs57715289	0.91[ASN][1000 genomes]
rs59123253	0.93[ASN][1000 genomes]
rs59858392	0.91[ASN][1000 genomes]
rs60482457	0.90[ASN][1000 genomes]
rs62525696	0.91[ASN][1000 genomes]
rs62525736	0.92[ASN][1000 genomes]
rs62527360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527363	0.99[ASN][1000 genomes]
rs62527373	0.99[ASN][1000 genomes]
rs62527374	0.99[ASN][1000 genomes]
rs62527375	0.93[ASN][1000 genomes]
rs62527376	0.99[ASN][1000 genomes]
rs62527400	0.99[ASN][1000 genomes]
rs62527405	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415444	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469023	0.92[ASN][1000 genomes]
rs6469026	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469027	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469028	0.93[ASN][1000 genomes]
rs6469030	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469031	0.94[ASN][1000 genomes]
rs6469032	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984393	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987512	0.92[ASN][1000 genomes]
rs6997487	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999580	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003520	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006651	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7008840	0.99[ASN][1000 genomes]
rs7012379	0.88[ASN][1000 genomes]
rs72676052	0.99[ASN][1000 genomes]
rs7460291	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812766	0.98[ASN][1000 genomes]
rs7815337	0.97[ASN][1000 genomes]
rs7819043	0.92[ASN][1000 genomes]
rs7819501	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829054	0.99[ASN][1000 genomes]
rs7830426	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836196	0.91[ASN][1000 genomes]
rs7839195	0.98[ASN][1000 genomes]
rs7839239	0.96[ASN][1000 genomes]
rs7843166	0.88[ASN][1000 genomes]
rs7846149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846262	0.99[ASN][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv611841	chr8:107048059-107090500	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107052200-107069200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107056400-107059000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:107056400-107060800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:107057000-107060600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:107057200-107059800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:107057200-107060600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:107057200-107060800	Enhancers	NHDF-Ad	bronchial
8	chr8:107057200-107060800	Enhancers	Osteobl	bone
9	chr8:107057400-107060000	Enhancers	Hela-S3	cervix
10	chr8:107057800-107059200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:107057800-107059400	Enhancers	NHEK	skin
12	chr8:107057800-107060000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:107058000-107059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:107058000-107059400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:107058000-107059400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:107058000-107059400	Enhancers	HMEC	breast
17	chr8:107058000-107059600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:107058000-107060400	Enhancers	NHLF	lung
19	chr8:107058000-107060800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:107058200-107059000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:107058200-107059200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:107058200-107060400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:107058400-107059200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:107058600-107059600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:107058600-107060200	Enhancers	HUVEC	blood vessel
26	chr8:107058600-107060400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:107058600-107067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:107058800-107059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:107058800-107059400	Enhancers	NH-A	brain
30	chr8:107058800-107060200	Weak transcription	Fetal Kidney	kidney
31	chr8:107058800-107060200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:107058800-107060600	Enhancers	A549	lung

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