Variant report

Variant	rs11239695
Chromosome Location	chr10:43097624-43097625
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10128322	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11239664	0.83[EUR][1000 genomes]
rs11239707	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11239708	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11239709	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12219669	0.83[EUR][1000 genomes]
rs12240565	0.86[ASN][1000 genomes]
rs12242735	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12245618	0.86[ASN][1000 genomes]
rs12247715	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12255518	0.90[AFR][1000 genomes]
rs12256744	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12256867	0.94[ASN][1000 genomes]
rs12260943	0.91[AFR][1000 genomes]
rs12260958	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12261023	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12261168	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12262549	1.00[ASN][1000 genomes]
rs12262782	0.91[AFR][1000 genomes]
rs12265792	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12266387	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12268051	0.88[AFR][1000 genomes]
rs12268549	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12269593	0.89[AFR][1000 genomes]
rs1413393	1.00[ASN][1000 genomes]
rs17157476	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17157513	0.88[ASN][1000 genomes]
rs17157528	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17158029	0.88[ASN][1000 genomes]
rs1830491	0.83[ASN][1000 genomes]
rs2297693	0.88[ASN][1000 genomes]
rs28404481	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28454399	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740326	0.83[EUR][1000 genomes]
rs55904273	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs55914715	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56355729	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57084246	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58635980	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58877883	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60433789	0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7069467	0.94[ASN][1000 genomes]
rs7071990	0.94[ASN][1000 genomes]
rs7078390	0.94[ASN][1000 genomes]
rs7079577	0.94[ASN][1000 genomes]
rs7082367	0.94[ASN][1000 genomes]
rs7097766	1.00[ASN][1000 genomes]
rs7100293	0.86[ASN][1000 genomes]
rs73266634	0.94[ASN][1000 genomes]
rs74137906	0.91[AFR][1000 genomes]
rs74137907	0.91[AFR][1000 genomes]
rs74137908	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74137910	0.91[AFR][1000 genomes]
rs74137911	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74137912	0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74137913	0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74137915	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74137917	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74137918	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74137928	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74137929	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7900972	0.88[ASN][1000 genomes]
rs7903632	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7904627	0.94[ASN][1000 genomes]
rs7906532	0.86[ASN][1000 genomes]
rs7910969	0.94[ASN][1000 genomes]
rs7912057	0.94[ASN][1000 genomes]
rs7916307	0.83[ASN][1000 genomes]
rs7919880	0.88[ASN][1000 genomes]
rs7921258	0.83[ASN][1000 genomes]
rs7921658	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:43089600-43123600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:43089800-43098400	Weak transcription	Thymus	Thymus
4	chr10:43089800-43099800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:43089800-43107600	Weak transcription	HepG2	liver
6	chr10:43089800-43126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
10	chr10:43090000-43119200	Weak transcription	Brain Anterior Caudate	brain
11	chr10:43090000-43119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:43090200-43108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:43090400-43099200	Weak transcription	Placenta	Placenta
14	chr10:43090400-43107200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:43090400-43108000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:43090400-43118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:43090600-43104800	Weak transcription	Hela-S3	cervix
18	chr10:43090600-43107200	Weak transcription	K562	blood
19	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:43091000-43123800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:43091200-43098800	Weak transcription	Brain Germinal Matrix	brain
22	chr10:43091200-43100200	Weak transcription	Fetal Brain Male	brain
23	chr10:43091200-43107800	Weak transcription	Fetal Thymus	thymus
24	chr10:43091200-43108800	Weak transcription	Adipose Nuclei	Adipose
25	chr10:43091200-43123600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr10:43091200-43126000	Weak transcription	Small Intestine	intestine
27	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:43091400-43098000	Weak transcription	Fetal Lung	lung
29	chr10:43091400-43098600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:43091400-43099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:43091400-43099200	Weak transcription	Fetal Brain Female	brain
32	chr10:43091400-43101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:43091400-43101200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:43091400-43101400	Weak transcription	Ovary	ovary
35	chr10:43091400-43107600	Weak transcription	Psoas Muscle	Psoas
36	chr10:43091400-43108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:43091400-43119600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:43091400-43132400	Weak transcription	HMEC	breast
39	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
40	chr10:43091800-43107800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:43093800-43100200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:43094000-43098400	Weak transcription	Aorta	Aorta
43	chr10:43094000-43099200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:43094000-43099200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:43094000-43100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:43094000-43108400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:43094000-43108600	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:43094000-43119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:43094000-43119400	Weak transcription	Spleen	Spleen
50	chr10:43094200-43098200	Weak transcription	Pancreas	Pancrea

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