Variant report

Variant	rs2011806
Chromosome Location	chr10:90778635-90778636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10887879	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202925	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11202927	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12257092	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571020	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800623	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810764	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926188	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031611	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031613	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147419	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2234978	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934435	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934436	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7089946	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7092857	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907684	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2011806	ACTA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90754000-90779400	Weak transcription	HepG2	liver
2	chr10:90754000-90789600	Weak transcription	A549	lung
3	chr10:90756200-90781800	Weak transcription	Stomach Mucosa	stomach
4	chr10:90760400-90780400	Weak transcription	Brain Angular Gyrus	brain
5	chr10:90761600-90779000	Weak transcription	Dnd41	blood
6	chr10:90761600-90779400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:90761800-90779600	Weak transcription	HSMMtube	muscle
8	chr10:90761800-90779800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:90761800-90783800	Weak transcription	Gastric	stomach
10	chr10:90761800-90786200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:90762400-90785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:90762600-90779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:90762600-90780400	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:90762600-90786000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:90762800-90781000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:90762800-90782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr10:90763000-90779600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:90763600-90780800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:90766000-90780400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:90766200-90785600	Strong transcription	GM12878-XiMat	blood
21	chr10:90767400-90779000	Strong transcription	Liver	Liver
22	chr10:90767400-90781000	Strong transcription	Osteobl	bone
23	chr10:90767600-90778800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:90767600-90780800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:90767600-90786600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:90767800-90779600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:90767800-90781800	Weak transcription	Small Intestine	intestine
28	chr10:90768400-90780000	Weak transcription	Psoas Muscle	Psoas
29	chr10:90768400-90785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:90768800-90779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:90769200-90779600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr10:90769400-90781400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr10:90771600-90779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:90771600-90782600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr10:90771600-90784800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:90771600-90789600	Weak transcription	Brain Anterior Caudate	brain
37	chr10:90771800-90808600	Weak transcription	Primary T cells from cord blood	blood
38	chr10:90772000-90779000	Weak transcription	NHEK	skin
39	chr10:90772400-90795000	Weak transcription	Placenta	Placenta
40	chr10:90772600-90779400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr10:90772600-90779600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:90772600-90780000	Weak transcription	Adipose Nuclei	Adipose
43	chr10:90772600-90784600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:90772600-90789600	Weak transcription	Fetal Stomach	stomach
45	chr10:90772600-90791800	Weak transcription	Esophagus	oesophagus
46	chr10:90772600-90792000	Weak transcription	Colonic Mucosa	Colon
47	chr10:90772600-90795800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:90773000-90780200	Weak transcription	Fetal Brain Male	brain
49	chr10:90773200-90779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:90773400-90779200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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