Variant report

Variant	rs7078413
Chromosome Location	chr10:94290484-94290485
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	chr10:94286303..94289350-chr10:94289651..94292347,3	MCF-7	breast:
2	chr10:94289161..94292138-chr10:94332581..94334284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10882082	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10882086	0.81[JPT][hapmap]
rs10882088	0.81[JPT][hapmap]
rs11187057	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11187060	0.87[ASW][hapmap];0.92[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11187076	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs11187115	0.81[JPT][hapmap]
rs12412249	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12416180	0.80[JPT][hapmap]
rs17107734	0.88[JPT][hapmap]
rs1832197	0.92[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs1999763	0.85[JPT][hapmap]
rs1999764	0.85[JPT][hapmap]
rs2275219	0.81[JPT][hapmap]
rs2297743	0.81[JPT][hapmap]
rs2421945	0.85[GIH][hapmap]
rs3758503	0.85[JPT][hapmap]
rs3758505	0.85[JPT][hapmap]
rs4646954	0.84[JPT][hapmap]
rs4933731	0.81[JPT][hapmap]
rs6583833	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs7068618	0.85[JPT][hapmap]
rs7075851	0.85[JPT][hapmap]
rs7078243	0.93[ASW][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs7900584	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv551924	chr10:94212742-94290484	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv1802816	chr10:94232247-94294291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7078413	ACTA2	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94244000-94303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:94250200-94295200	Weak transcription	Pancreas	Pancrea
3	chr10:94250200-94297200	Weak transcription	Brain Germinal Matrix	brain
4	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
5	chr10:94250400-94301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
7	chr10:94252600-94302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:94260000-94296800	Weak transcription	Esophagus	oesophagus
9	chr10:94262000-94297600	Weak transcription	Psoas Muscle	Psoas
10	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:94264200-94295000	Weak transcription	Small Intestine	intestine
12	chr10:94267600-94297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
15	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:94268000-94313800	Weak transcription	NHLF	lung
17	chr10:94268600-94290800	Weak transcription	Fetal Lung	lung
18	chr10:94268600-94295200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr10:94268600-94300000	Weak transcription	Colonic Mucosa	Colon
20	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
21	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:94269800-94295000	Weak transcription	Lung	lung
23	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:94272200-94291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:94272200-94298600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:94272200-94313800	Weak transcription	HSMMtube	muscle
27	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:94272200-94332200	Weak transcription	Gastric	stomach
29	chr10:94272400-94293800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:94272400-94313600	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:94272800-94291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr10:94272800-94313200	Weak transcription	Fetal Brain Female	brain
33	chr10:94274400-94303400	Weak transcription	HMEC	breast
34	chr10:94274800-94292400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr10:94276800-94294400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr10:94276800-94304000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr10:94277000-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:94277200-94298000	Weak transcription	Brain Anterior Caudate	brain
39	chr10:94277200-94303000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:94277200-94304000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:94277200-94313800	Weak transcription	Brain Angular Gyrus	brain
42	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
43	chr10:94277400-94304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr10:94279400-94290800	Weak transcription	Primary B cells from cord blood	blood
46	chr10:94281200-94292600	Weak transcription	Hela-S3	cervix
47	chr10:94283400-94297400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:94285800-94295400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr10:94286200-94297600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:94286400-94298200	Strong transcription	Monocytes-CD14+_RO01746	blood

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