Variant report

Variant	rs4431933
Chromosome Location	chr10:90675836-90675837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90675298..90677096-chr10:90678341..90680775,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10887867	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10887870	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11202890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202897	0.84[CEU][hapmap]
rs11202898	0.84[CEU][hapmap]
rs11202899	0.84[CEU][hapmap]
rs11202902	0.84[CEU][hapmap]
rs11202906	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11202907	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs11591231	0.84[CEU][hapmap]
rs11595119	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12254084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254856	0.84[CEU][hapmap]
rs12256739	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12267680	0.84[CEU][hapmap]
rs1441738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113606	0.80[CHB][hapmap]
rs17114152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17114161	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17114327	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1977388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2119685	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7078383	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7085698	0.92[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7090631	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs7098235	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72809324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897521	0.92[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs7915393	0.92[CEU][hapmap];0.96[GIH][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][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
rs4431933	ACTA2	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90642000-90684800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:90642000-90686400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:90647400-90681000	Weak transcription	Aorta	Aorta
4	chr10:90654000-90687400	Weak transcription	Right Ventricle	heart
5	chr10:90655200-90701400	Weak transcription	Gastric	stomach
6	chr10:90657400-90676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:90657600-90677600	Weak transcription	Lung	lung
8	chr10:90657600-90686400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:90658600-90686000	Weak transcription	Brain Anterior Caudate	brain
10	chr10:90659600-90689800	Weak transcription	Esophagus	oesophagus
11	chr10:90660400-90695000	Weak transcription	Fetal Brain Male	brain
12	chr10:90660600-90688200	Strong transcription	Dnd41	blood
13	chr10:90661200-90676200	Strong transcription	Fetal Thymus	thymus
14	chr10:90661600-90678400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:90661600-90687600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr10:90661600-90688800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:90661600-90692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:90662000-90676200	Weak transcription	NH-A	brain
19	chr10:90662000-90683000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:90662600-90687600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:90662800-90688800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr10:90664200-90676800	Weak transcription	NHEK	skin
23	chr10:90664200-90694600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:90664400-90679400	Weak transcription	Thymus	Thymus
25	chr10:90664400-90679600	Weak transcription	Ovary	ovary
26	chr10:90664400-90683800	Weak transcription	Colonic Mucosa	Colon
27	chr10:90664400-90685600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr10:90664400-90691200	Weak transcription	Small Intestine	intestine
29	chr10:90664400-90694800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:90664600-90685400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:90666000-90692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:90667600-90685800	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:90668200-90683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:90668400-90694800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:90668600-90685800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:90669800-90689200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr10:90670200-90677200	Strong transcription	HSMM	muscle
38	chr10:90670200-90680400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:90670400-90676200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:90672200-90677600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr10:90672200-90683800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:90672400-90679000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:90673400-90677400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:90673800-90676400	Weak transcription	Primary B cells from cord blood	blood
45	chr10:90673800-90677400	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:90673800-90678800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:90673800-90681000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr10:90674000-90676600	Weak transcription	Osteobl	bone
49	chr10:90674800-90676000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:90674800-90676400	Enhancers	Primary neutrophils fromperipheralblood	blood

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