Variant report

Variant	rs7897521
Chromosome Location	chr10:90707936-90707937
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10509558	0.91[CHB][hapmap]
rs10509559	0.91[CHB][hapmap]
rs10509560	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs10887867	0.92[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs10887870	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11202890	0.92[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs11202897	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11202898	0.91[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs11202899	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11202902	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11202906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11202907	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11591231	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11595119	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11596205	0.83[EUR][1000 genomes]
rs1214564	0.83[CEU][hapmap]
rs12241401	0.82[EUR][1000 genomes]
rs12242274	0.91[CHB][hapmap]
rs12243282	0.91[CHB][hapmap]
rs12243621	0.91[CHB][hapmap]
rs12247227	0.88[CHB][hapmap]
rs12248284	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs12254084	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs12254856	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12256739	0.85[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs12260572	0.91[CHB][hapmap]
rs12262461	0.91[CHB][hapmap]
rs12264840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12267680	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1441738	0.90[EUR][1000 genomes]
rs17113942	0.91[CHB][hapmap]
rs17113959	0.91[CHB][hapmap]
rs17114000	0.91[CHB][hapmap]
rs17114016	0.91[CHB][hapmap]
rs17114020	0.91[CHB][hapmap]
rs17114024	0.91[CHB][hapmap]
rs17114057	0.91[CHB][hapmap]
rs17114116	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs17114143	1.00[CHB][hapmap]
rs17114152	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs17114186	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[ASN][1000 genomes]
rs17114283	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs17114327	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1977388	0.90[EUR][1000 genomes]
rs2119685	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2231780	0.91[CHB][hapmap]
rs2231785	0.91[CHB][hapmap]
rs2231786	0.91[CHB][hapmap]
rs2439707	0.83[CEU][hapmap]
rs2481918	0.83[CEU][hapmap]
rs3781206	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs3781208	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3781212	0.92[ASN][1000 genomes]
rs3816245	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs3898173	0.91[CHB][hapmap]
rs3898174	0.91[CHB][hapmap]
rs41284106	0.84[EUR][1000 genomes]
rs41317244	0.82[EUR][1000 genomes]
rs4431933	0.92[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs45493098	0.84[EUR][1000 genomes]
rs56104559	0.83[EUR][1000 genomes]
rs56228317	0.82[EUR][1000 genomes]
rs56268252	0.82[EUR][1000 genomes]
rs57807025	0.83[EUR][1000 genomes]
rs59737591	0.83[EUR][1000 genomes]
rs66478243	0.83[EUR][1000 genomes]
rs7070713	1.00[CHB][hapmap]
rs7078383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085698	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7090631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7098235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72809310	0.82[EUR][1000 genomes]
rs72809311	0.82[EUR][1000 genomes]
rs72809314	0.82[EUR][1000 genomes]
rs72809318	0.82[EUR][1000 genomes]
rs72809324	0.90[EUR][1000 genomes]
rs72809325	0.90[EUR][1000 genomes]
rs72809335	0.83[EUR][1000 genomes]
rs72809337	0.84[EUR][1000 genomes]
rs72809342	0.84[EUR][1000 genomes]
rs7908852	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[ASN][1000 genomes]
rs7915393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	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
rs7897521	ACTA2	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:90695600-90710200	Weak transcription	NHEK	skin
3	chr10:90695600-90710800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:90695800-90708200	Weak transcription	Liver	Liver
5	chr10:90695800-90708400	Weak transcription	Fetal Heart	heart
6	chr10:90695800-90709800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:90695800-90709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:90695800-90709800	Weak transcription	HMEC	breast
9	chr10:90695800-90710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:90695800-90710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:90695800-90710800	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:90695800-90710800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:90695800-90711000	Weak transcription	Brain Angular Gyrus	brain
14	chr10:90695800-90711200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
17	chr10:90699400-90710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:90699400-90715400	Weak transcription	HepG2	liver
19	chr10:90699600-90710800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:90699600-90712200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
22	chr10:90699800-90709800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:90699800-90710000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:90699800-90710000	Weak transcription	Right Ventricle	heart
25	chr10:90700000-90712000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:90700400-90709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:90701200-90709400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:90701200-90710400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:90701200-90710800	Weak transcription	Adipose Nuclei	Adipose
30	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
31	chr10:90701600-90711600	Weak transcription	Esophagus	oesophagus
32	chr10:90701800-90708600	Weak transcription	Gastric	stomach
33	chr10:90701800-90709800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:90702000-90709800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:90702400-90709800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:90703400-90708800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
37	chr10:90703600-90708600	Weak transcription	Lung	lung
38	chr10:90703600-90709000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:90703600-90710000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:90703600-90710000	Weak transcription	Colonic Mucosa	Colon
41	chr10:90703600-90711600	Weak transcription	Spleen	Spleen
42	chr10:90703800-90709800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:90703800-90711600	Weak transcription	Pancreas	Pancrea
44	chr10:90704000-90710800	Weak transcription	Left Ventricle	heart
45	chr10:90704000-90711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr10:90704200-90710800	Weak transcription	Placenta	Placenta
48	chr10:90704800-90709800	Weak transcription	HSMM	muscle
49	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr10:90705200-90709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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