Variant report

Variant	rs7916294
Chromosome Location	chr10:90744325-90744326
allele	A/C
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	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10509561	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10887875	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202921	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571020	1.00[JPT][hapmap]
rs2147419	0.93[ASN][1000 genomes]
rs2234978	1.00[JPT][hapmap]
rs4064	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7085705	0.80[AMR][1000 genomes];0.90[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7916294	ACTA2	cis	multi-tissue	Pritchard
rs7916294	ACTA2	cis	lymphoblastoid	seeQTL
rs7916294	FAS	cis	multi-tissue	Pritchard
rs7916294	ACTA2	cis	Whole Blood	GTEx
rs7916294	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs7916294	FAS	cis	parietal	SCAN
rs7916294	ACTA2-AS1	cis	Whole Blood	GTEx

Chromatin state (count:60 , 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	chr10:90738200-90744800	Enhancers	Rectal Smooth Muscle	rectum
8	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
9	chr10:90739200-90745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:90739400-90745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:90739400-90749400	Weak transcription	NHEK	skin
12	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
16	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:90739800-90749200	Weak transcription	HMEC	breast
18	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
19	chr10:90740400-90746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:90740600-90745200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:90740800-90749200	Weak transcription	NH-A	brain
22	chr10:90741000-90745200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
27	chr10:90741400-90744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:90741600-90745600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
31	chr10:90741600-90749400	Weak transcription	HSMM	muscle
32	chr10:90742600-90744600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:90742600-90745400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:90742600-90746400	Weak transcription	Fetal Kidney	kidney
35	chr10:90742800-90746000	Weak transcription	NHLF	lung
36	chr10:90742800-90747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:90743000-90746600	Weak transcription	Liver	Liver
39	chr10:90743200-90746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:90743200-90746400	Weak transcription	NHDF-Ad	bronchial
41	chr10:90743200-90746600	Enhancers	Stomach Smooth Muscle	stomach
42	chr10:90743400-90744600	Enhancers	Stomach Mucosa	stomach
43	chr10:90743400-90744600	Strong transcription	Osteobl	bone
44	chr10:90743600-90744800	Enhancers	GM12878-XiMat	blood
45	chr10:90743600-90745400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:90743600-90746600	Enhancers	Ovary	ovary
47	chr10:90743800-90746000	Enhancers	Aorta	Aorta
48	chr10:90743800-90746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
50	chr10:90744200-90744600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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