Variant report

Variant	rs9894138
Chromosome Location	chr17:17964345-17964346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1008135	0.83[EUR][1000 genomes]
rs1101727	0.83[EUR][1000 genomes]
rs11078410	0.82[EUR][1000 genomes]
rs11650021	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11869491	0.86[EUR][1000 genomes]
rs11870660	0.81[ASN][1000 genomes]
rs11871231	0.87[EUR][1000 genomes]
rs12150369	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12939020	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12940282	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12948749	0.84[EUR][1000 genomes]
rs2056842	0.82[EUR][1000 genomes]
rs28537385	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28555361	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2955350	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955352	0.86[AMR][1000 genomes]
rs2955353	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955354	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955355	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955356	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955357	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955358	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955359	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955365	0.83[EUR][1000 genomes]
rs2955366	0.83[EUR][1000 genomes]
rs2955368	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2955369	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2955370	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955371	0.83[EUR][1000 genomes]
rs2955372	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955377	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955378	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2955380	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2955381	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955383	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2955384	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955385	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2974998	0.86[EUR][1000 genomes]
rs2974999	0.85[EUR][1000 genomes]
rs4072738	0.87[EUR][1000 genomes]
rs4072739	0.87[EUR][1000 genomes]
rs4365346	0.85[EUR][1000 genomes]
rs4365348	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4368210	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4410135	0.87[EUR][1000 genomes]
rs4426402	0.86[EUR][1000 genomes]
rs4459604	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4506967	0.81[EUR][1000 genomes]
rs4506969	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4561528	0.84[EUR][1000 genomes]
rs4584886	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4643387	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924832	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925135	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4925136	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59518074	0.87[EUR][1000 genomes]
rs62072048	0.83[EUR][1000 genomes]
rs62072050	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62073573	0.87[EUR][1000 genomes]
rs6502631	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502632	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502633	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502634	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6502636	0.86[EUR][1000 genomes]
rs6502637	0.85[EUR][1000 genomes]
rs6826	0.83[EUR][1000 genomes]
rs712267	0.83[EUR][1000 genomes]
rs712268	0.83[EUR][1000 genomes]
rs7207461	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7207821	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7209003	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7210400	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7211714	0.86[EUR][1000 genomes]
rs7212167	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212447	0.85[EUR][1000 genomes]
rs7215524	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs721669	0.84[EUR][1000 genomes]
rs7219324	0.88[EUR][1000 genomes]
rs7223696	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224047	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7406744	0.85[EUR][1000 genomes]
rs7406982	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs741782	0.83[EUR][1000 genomes]
rs7503738	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8066764	0.85[EUR][1000 genomes]
rs8068175	0.81[ASN][1000 genomes]
rs8069811	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070731	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8071238	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8075189	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080334	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8080602	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8082590	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs854763	0.84[EUR][1000 genomes]
rs854767	0.83[EUR][1000 genomes]
rs854768	0.83[EUR][1000 genomes]
rs854769	0.83[EUR][1000 genomes]
rs854770	0.83[EUR][1000 genomes]
rs854789	0.83[EUR][1000 genomes]
rs854790	0.82[EUR][1000 genomes]
rs854791	0.83[EUR][1000 genomes]
rs854808	0.83[EUR][1000 genomes]
rs854809	0.83[EUR][1000 genomes]
rs854814	0.83[EUR][1000 genomes]
rs854817	0.83[EUR][1000 genomes]
rs854818	0.82[EUR][1000 genomes]
rs9303144	0.85[EUR][1000 genomes]
rs9896837	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9897761	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9899355	0.87[EUR][1000 genomes]
rs9911850	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9912096	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9913277	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17945200-17965200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:17945400-17967200	Weak transcription	Small Intestine	intestine
7	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
8	chr17:17948600-17964400	Weak transcription	K562	blood
9	chr17:17950000-17974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:17950800-17974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:17951000-17965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:17953400-17970000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:17953600-17966000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:17954000-17968600	Weak transcription	Psoas Muscle	Psoas
15	chr17:17954200-17974200	Weak transcription	Fetal Brain Male	brain
16	chr17:17954800-17974200	Weak transcription	Stomach Mucosa	stomach
17	chr17:17955600-17969400	Strong transcription	Fetal Muscle Leg	muscle
18	chr17:17955600-17969800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:17955600-17970600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:17955600-17971200	Strong transcription	Liver	Liver
21	chr17:17956600-17970800	Strong transcription	Fetal Intestine Small	intestine
22	chr17:17956800-17969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:17956800-17969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:17956800-17969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:17957000-17970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17957200-17966000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:17957200-17970600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr17:17957200-17970800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr17:17957400-17969400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr17:17958000-17964600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:17958000-17964600	Weak transcription	NH-A	brain
32	chr17:17958200-17964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:17960000-17969600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:17960200-17964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:17960200-17964400	Weak transcription	NHLF	lung
36	chr17:17960400-17964400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:17960400-17964400	Weak transcription	GM12878-XiMat	blood
38	chr17:17960400-17964800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:17960400-17968600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr17:17961400-17966000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:17961400-17966000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:17961400-17966400	Strong transcription	Fetal Brain Female	brain
43	chr17:17961400-17966400	Strong transcription	Fetal Thymus	thymus
44	chr17:17961400-17966800	Strong transcription	Thymus	Thymus
45	chr17:17961400-17969200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr17:17961400-17969200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:17961400-17969200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr17:17961400-17969400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr17:17961400-17970400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:17961400-17970800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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