Variant report

Variant	rs11202921
Chromosome Location	chr10:90745216-90745217
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:90740958..90743337-chr10:90743863..90746089,2	MCF-7	breast:
2	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:
3	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
4	chr10:90732274..90733956-chr10:90744737..90747226,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10509561	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147419	0.93[ASN][1000 genomes]
rs4064	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085705	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916294	0.85[AMR][1000 genomes];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11202921	ACTA2	cis	multi-tissue	Pritchard
rs11202921	ACTA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90735600-90746400	Weak transcription	HepG2	liver
3	chr10:90735600-90748600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:90735800-90746400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
8	chr10:90739400-90749400	Weak transcription	NHEK	skin
9	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
13	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:90739800-90749200	Weak transcription	HMEC	breast
15	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
16	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:90740800-90749200	Weak transcription	NH-A	brain
18	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
22	chr10:90741600-90745600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
25	chr10:90741600-90749400	Weak transcription	HSMM	muscle
26	chr10:90742600-90745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:90742600-90746400	Weak transcription	Fetal Kidney	kidney
28	chr10:90742800-90746000	Weak transcription	NHLF	lung
29	chr10:90742800-90747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:90743000-90746600	Weak transcription	Liver	Liver
32	chr10:90743200-90746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:90743200-90746400	Weak transcription	NHDF-Ad	bronchial
34	chr10:90743200-90746600	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:90743600-90745400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:90743600-90746600	Enhancers	Ovary	ovary
37	chr10:90743800-90746000	Enhancers	Aorta	Aorta
38	chr10:90743800-90746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
40	chr10:90744200-90745600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:90744200-90746000	Weak transcription	Fetal Lung	lung
42	chr10:90744200-90746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:90744200-90746400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:90744200-90749200	Weak transcription	Fetal Stomach	stomach
45	chr10:90744200-90749200	Weak transcription	Right Atrium	heart
46	chr10:90744200-90749600	Weak transcription	Fetal Intestine Small	intestine
47	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
48	chr10:90744600-90748400	Weak transcription	Osteobl	bone
49	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
50	chr10:90744800-90745400	Weak transcription	Rectal Smooth Muscle	rectum

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