Variant report

Variant	rs11813723
Chromosome Location	chr10:38354293-38354294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10827834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011391	1.00[AMR][1000 genomes]
rs11011393	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011429	1.00[EUR][1000 genomes]
rs11011430	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011438	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11812927	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11814622	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816307	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11817782	0.94[AFR][1000 genomes]
rs11818933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12241614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245586	1.00[EUR][1000 genomes]
rs12250395	1.00[EUR][1000 genomes]
rs12252754	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12770231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12773340	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12777107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12779056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2023432	1.00[EUR][1000 genomes]
rs34445730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34918037	1.00[EUR][1000 genomes]
rs35006520	1.00[EUR][1000 genomes]
rs35246660	1.00[EUR][1000 genomes]
rs57753536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60538050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491214	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491227	1.00[EUR][1000 genomes]
rs71491228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9651365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38345400-38355200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:38345600-38354400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:38346200-38358200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:38347000-38358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:38348800-38354800	Strong transcription	Primary T cells from cord blood	blood
6	chr10:38350200-38356800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:38350200-38358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:38350400-38356000	Weak transcription	GM12878-XiMat	blood
9	chr10:38350600-38355000	Weak transcription	Small Intestine	intestine
10	chr10:38350600-38355200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:38350600-38355400	Weak transcription	Thymus	Thymus
12	chr10:38350600-38355600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:38350600-38356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:38350600-38357800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:38350600-38358000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:38350600-38358000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:38350600-38364000	Weak transcription	Ovary	ovary
18	chr10:38351000-38355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:38351200-38354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr10:38351200-38354800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:38351200-38355200	Weak transcription	NHEK	skin
22	chr10:38351200-38356000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:38351200-38356000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:38351200-38357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:38351400-38354600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:38351400-38354600	Weak transcription	Placenta	Placenta
27	chr10:38351400-38354600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr10:38351600-38354400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:38351600-38355400	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:38352800-38355000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:38353200-38354600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:38353200-38355000	Weak transcription	Dnd41	blood
33	chr10:38353200-38361400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr10:38353400-38355200	Weak transcription	Left Ventricle	heart
35	chr10:38353400-38355200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr10:38353400-38355600	Weak transcription	Primary B cells from cord blood	blood
37	chr10:38353400-38356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:38353600-38355400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:38353800-38354400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:38353800-38355400	Weak transcription	Brain Germinal Matrix	brain
41	chr10:38353800-38355400	Weak transcription	Fetal Brain Female	brain
42	chr10:38354000-38355800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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