Variant report

Variant	rs6980590
Chromosome Location	chr8:61437887-61437888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1384687	0.85[EUR][1000 genomes]
rs16926133	0.82[ASN][1000 genomes]
rs16926137	0.82[ASN][1000 genomes]
rs16926155	0.82[ASN][1000 genomes]
rs16926208	0.82[ASN][1000 genomes]
rs16926270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926284	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926294	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926324	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926354	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16926358	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893273	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941462	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007283	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178953	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186985	0.82[ASN][1000 genomes]
rs3735827	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55761966	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831959	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55837608	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55841758	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030634	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114656	0.90[ASN][1000 genomes]
rs56123131	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56141796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192263	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56332284	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56342714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57297574	0.82[ASN][1000 genomes]
rs57550331	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58183709	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162154	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59861870	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60012828	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60183060	0.90[ASN][1000 genomes]
rs60369157	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60991551	0.87[ASN][1000 genomes]
rs61120651	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471892	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6981694	0.82[ASN][1000 genomes]
rs7016685	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714207	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648529	0.82[ASN][1000 genomes]
rs72648531	0.82[ASN][1000 genomes]
rs72648552	0.84[ASN][1000 genomes]
rs72648553	0.90[ASN][1000 genomes]
rs72648562	0.88[ASN][1000 genomes]
rs72648567	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648589	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648590	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648594	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648597	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648602	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650405	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650416	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650417	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650422	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650425	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817790	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825009	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825055	0.90[ASN][1000 genomes]
rs7829407	0.82[ASN][1000 genomes]
rs7830976	0.90[ASN][1000 genomes]
rs7845982	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922611	0.82[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:61432000-61440200	Enhancers	Liver	Liver
8	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
10	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:61433000-61438400	Enhancers	Fetal Heart	heart
13	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
14	chr8:61433400-61438000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:61433600-61438800	Weak transcription	Fetal Thymus	thymus
16	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
18	chr8:61434000-61438400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:61434400-61438200	Enhancers	Primary T cells from cord blood	blood
21	chr8:61434400-61438400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:61434600-61438200	Enhancers	Stomach Mucosa	stomach
23	chr8:61434600-61439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
26	chr8:61434800-61438600	Weak transcription	Lung	lung
27	chr8:61434800-61438800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:61434800-61438800	Weak transcription	Esophagus	oesophagus
29	chr8:61434800-61438800	Weak transcription	Gastric	stomach
30	chr8:61434800-61438800	Weak transcription	Left Ventricle	heart
31	chr8:61434800-61438800	Weak transcription	Pancreas	Pancrea
32	chr8:61434800-61438800	Weak transcription	Right Atrium	heart
33	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:61434800-61458000	Weak transcription	Dnd41	blood
38	chr8:61434800-61480600	Weak transcription	HMEC	breast
39	chr8:61435000-61440600	Weak transcription	K562	blood
40	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
41	chr8:61435400-61470800	Weak transcription	NHEK	skin
42	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:61435600-61446600	Weak transcription	A549	lung
44	chr8:61435800-61438200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:61436000-61438000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:61436000-61438000	Enhancers	Fetal Lung	lung
47	chr8:61436000-61438600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:61436200-61438000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:61436400-61438000	Enhancers	Fetal Muscle Leg	muscle
50	chr8:61436400-61438400	Enhancers	Primary hematopoietic stem cells	blood

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