Variant report

Variant	rs209379
Chromosome Location	chr10:43111670-43111671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10128322	0.82[EUR][1000 genomes]
rs10900240	0.80[EUR][1000 genomes]
rs10900251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10900253	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11239619	0.80[EUR][1000 genomes]
rs11239621	0.80[EUR][1000 genomes]
rs11239622	0.80[EUR][1000 genomes]
rs11239661	0.81[EUR][1000 genomes]
rs11239662	0.81[EUR][1000 genomes]
rs11239663	0.81[EUR][1000 genomes]
rs11239668	0.84[EUR][1000 genomes]
rs11239669	0.84[EUR][1000 genomes]
rs11239670	0.84[EUR][1000 genomes]
rs11239671	0.84[EUR][1000 genomes]
rs11239672	0.81[EUR][1000 genomes]
rs11239675	0.84[EUR][1000 genomes]
rs11239707	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11239708	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11239709	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11528552	0.81[EUR][1000 genomes]
rs12217930	0.84[EUR][1000 genomes]
rs12221408	0.82[EUR][1000 genomes]
rs12240565	0.82[EUR][1000 genomes]
rs12242735	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12245618	0.85[EUR][1000 genomes]
rs12256867	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12257762	0.80[EUR][1000 genomes]
rs12257897	0.80[EUR][1000 genomes]
rs12259767	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12261023	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12261168	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12262549	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12263651	0.80[EUR][1000 genomes]
rs12266387	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12268359	0.80[EUR][1000 genomes]
rs1413393	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs158369	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158386	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1830491	0.85[EUR][1000 genomes]
rs1831910	0.81[EUR][1000 genomes]
rs2005977	0.84[EUR][1000 genomes]
rs2005978	0.84[EUR][1000 genomes]
rs2016696	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs209378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209393	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297693	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2419368	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28404481	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3740324	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3740325	0.84[EUR][1000 genomes]
rs41301639	0.80[AMR][1000 genomes]
rs55904273	0.86[EUR][1000 genomes]
rs55914715	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58635980	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58877883	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60433789	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6593371	0.81[EUR][1000 genomes]
rs6593413	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs672073	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs672077	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7069663	0.84[EUR][1000 genomes]
rs7071990	0.81[EUR][1000 genomes]
rs7075245	0.81[EUR][1000 genomes]
rs7076534	0.84[EUR][1000 genomes]
rs7078390	0.81[EUR][1000 genomes]
rs7079581	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7082367	0.81[EUR][1000 genomes]
rs7085956	0.84[EUR][1000 genomes]
rs7097766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7098574	0.84[EUR][1000 genomes]
rs7100293	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73260601	0.84[EUR][1000 genomes]
rs73262610	0.84[EUR][1000 genomes]
rs73262631	0.84[EUR][1000 genomes]
rs73266634	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74137908	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74137911	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74137912	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74137913	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74137929	0.85[EUR][1000 genomes]
rs7900972	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7903632	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7904627	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7906532	0.85[EUR][1000 genomes]
rs7910969	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7916307	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7919880	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7920292	0.81[EUR][1000 genomes]
rs7920620	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv975036	chr10:43090222-43132879	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43089600-43123600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:43089800-43126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
6	chr10:43090000-43119200	Weak transcription	Brain Anterior Caudate	brain
7	chr10:43090000-43119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:43090400-43118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:43091000-43123800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:43091200-43123600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:43091200-43126000	Weak transcription	Small Intestine	intestine
13	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:43091400-43119600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:43091400-43132400	Weak transcription	HMEC	breast
16	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
17	chr10:43094000-43119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:43094000-43119400	Weak transcription	Spleen	Spleen
19	chr10:43094200-43119400	Weak transcription	Right Atrium	heart
20	chr10:43094400-43133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:43095400-43126000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:43095600-43125800	Weak transcription	HUVEC	blood vessel
23	chr10:43096800-43115000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:43096800-43119400	Weak transcription	NHEK	skin
25	chr10:43097200-43115400	Weak transcription	Stomach Mucosa	stomach
26	chr10:43097600-43118400	Weak transcription	Esophagus	oesophagus
27	chr10:43100400-43118400	Weak transcription	Pancreas	Pancrea
28	chr10:43101000-43133000	Weak transcription	NH-A	brain
29	chr10:43102000-43119400	Weak transcription	Gastric	stomach
30	chr10:43102000-43126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:43102000-43132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:43102200-43115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:43103600-43115400	Weak transcription	GM12878-XiMat	blood
34	chr10:43104200-43115400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:43105800-43113200	Weak transcription	Hela-S3	cervix
36	chr10:43105800-43119400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:43106200-43132600	Weak transcription	Fetal Heart	heart
38	chr10:43107000-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:43107400-43112000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:43107400-43129000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:43107800-43119400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:43108000-43133200	Weak transcription	Psoas Muscle	Psoas
43	chr10:43108400-43115400	Weak transcription	Thymus	Thymus
44	chr10:43108600-43116400	Weak transcription	HepG2	liver
45	chr10:43108800-43119400	Weak transcription	Left Ventricle	heart
46	chr10:43109000-43113400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:43109000-43115400	Weak transcription	Lung	lung
48	chr10:43109000-43133200	Weak transcription	Aorta	Aorta
49	chr10:43109200-43115400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:43109200-43117200	Weak transcription	Adipose Nuclei	Adipose

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