Variant report

Variant	rs10887875
Chromosome Location	chr10:90742982-90742983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90740958..90743337-chr10:90743863..90746089,2	MCF-7	breast:
2	chr10:90741270..90743271-chr10:90750975..90752667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107796	Chromatin interaction
ENSG00000026103	Chromatin interaction

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

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

rs_ID	r²[population]
rs10509561	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202921	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	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085705	1.00[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
rs10887875	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs10887875	ACTA2	cis	multi-tissue	Pritchard

Chromatin state (count:62 , 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	chr10:90735800-90743800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:90735800-90746400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:90736400-90743200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:90738200-90744200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:90738200-90744800	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
12	chr10:90739200-90743000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:90739200-90745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:90739400-90743800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:90739400-90745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:90739400-90749400	Weak transcription	NHEK	skin
17	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:90739800-90749200	Weak transcription	HMEC	breast
23	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
24	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:90740600-90743000	Enhancers	Stomach Mucosa	stomach
26	chr10:90740600-90745200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:90740800-90743000	Weak transcription	Fetal Stomach	stomach
28	chr10:90740800-90749200	Weak transcription	NH-A	brain
29	chr10:90741000-90743400	Weak transcription	Osteobl	bone
30	chr10:90741000-90745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
35	chr10:90741400-90743600	Weak transcription	Fetal Intestine Large	intestine
36	chr10:90741400-90744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:90741600-90743600	Weak transcription	Ovary	ovary
38	chr10:90741600-90745600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
41	chr10:90741600-90749400	Weak transcription	HSMM	muscle
42	chr10:90741800-90743000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:90742000-90743000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:90742000-90743600	Weak transcription	Right Atrium	heart
45	chr10:90742200-90743200	Enhancers	NHDF-Ad	bronchial
46	chr10:90742400-90743200	Enhancers	Fetal Lung	lung
47	chr10:90742600-90743000	Enhancers	Liver	Liver
48	chr10:90742600-90743600	Active TSS	Aorta	Aorta
49	chr10:90742600-90743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:90742600-90743800	Weak transcription	Brain Anterior Caudate	brain

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