Variant report

Variant	rs2119685
Chromosome Location	chr10:90697695-90697696
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	chr10:90697471..90699634-chr10:90711409..90714221,2	K562	blood:

Variant related genes	Relation type
ENSG00000107796	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1008719	0.80[EUR][1000 genomes]
rs10509558	0.91[CHB][hapmap]
rs10509559	0.91[CHB][hapmap]
rs10509560	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs10887867	0.92[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10887870	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202890	0.92[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11202897	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs11202898	0.91[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs11202899	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11202902	0.91[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs11202906	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202907	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591231	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11595119	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11596205	0.84[EUR][1000 genomes]
rs1214564	0.83[CEU][hapmap]
rs12241401	0.83[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];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12254084	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12254856	0.91[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs12256739	0.85[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12260572	0.91[CHB][hapmap]
rs12262461	0.91[CHB][hapmap]
rs12264840	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12267680	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1441738	0.84[AMR][1000 genomes];0.91[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];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17114182	0.80[ASN][1000 genomes]
rs17114186	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17114283	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs17114327	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1977388	0.84[AMR][1000 genomes];0.91[EUR][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];0.81[ASN][1000 genomes]
rs3781208	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3781212	1.00[ASN][1000 genomes]
rs3816245	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs3898173	0.91[CHB][hapmap]
rs3898174	0.91[CHB][hapmap]
rs41284106	0.85[EUR][1000 genomes]
rs41317244	0.83[EUR][1000 genomes]
rs4431933	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45493098	0.85[EUR][1000 genomes]
rs56104559	0.84[EUR][1000 genomes]
rs56228317	0.83[EUR][1000 genomes]
rs56268252	0.83[EUR][1000 genomes]
rs57807025	0.84[EUR][1000 genomes]
rs59737591	0.84[EUR][1000 genomes]
rs66478243	0.84[EUR][1000 genomes]
rs7070713	1.00[CHB][hapmap]
rs7078383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7085698	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7090631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7098235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809310	0.83[EUR][1000 genomes]
rs72809311	0.83[EUR][1000 genomes]
rs72809314	0.83[EUR][1000 genomes]
rs72809318	0.83[EUR][1000 genomes]
rs72809324	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72809325	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72809335	0.84[EUR][1000 genomes]
rs72809337	0.85[EUR][1000 genomes]
rs72809342	0.85[EUR][1000 genomes]
rs7897521	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]
rs7908852	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7915393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988584	0.80[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
rs2119685	ACTA2	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
5	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
8	chr10:90694800-90698000	Genic enhancers	Rectal Smooth Muscle	rectum
9	chr10:90694800-90699800	Strong transcription	Aorta	Aorta
10	chr10:90695000-90703800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:90695200-90697800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:90695200-90697800	Weak transcription	Right Ventricle	heart
13	chr10:90695200-90700800	Weak transcription	Esophagus	oesophagus
14	chr10:90695200-90701600	Weak transcription	Colonic Mucosa	Colon
15	chr10:90695200-90702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:90695200-90703400	Weak transcription	Pancreas	Pancrea
17	chr10:90695200-90703800	Weak transcription	A549	lung
18	chr10:90695200-90704400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr10:90695200-90704800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:90695400-90697800	Weak transcription	Placenta	Placenta
21	chr10:90695400-90698600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:90695400-90699400	Weak transcription	Primary B cells from cord blood	blood
23	chr10:90695400-90703400	Strong transcription	Fetal Stomach	stomach
24	chr10:90695600-90699200	Weak transcription	Brain Anterior Caudate	brain
25	chr10:90695600-90700000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr10:90695600-90700600	Strong transcription	NH-A	brain
27	chr10:90695600-90700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:90695600-90700800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:90695600-90703400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:90695600-90703800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:90695600-90703800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:90695600-90704000	Strong transcription	Fetal Intestine Small	intestine
33	chr10:90695600-90704200	Strong transcription	NHLF	lung
34	chr10:90695600-90705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:90695600-90706200	Strong transcription	Osteobl	bone
36	chr10:90695600-90707200	Strong transcription	Fetal Muscle Leg	muscle
37	chr10:90695600-90710200	Weak transcription	NHEK	skin
38	chr10:90695600-90710800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:90695800-90698400	Weak transcription	Brain Substantia Nigra	brain
40	chr10:90695800-90699600	Strong transcription	Fetal Thymus	thymus
41	chr10:90695800-90700800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:90695800-90701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr10:90695800-90701600	Weak transcription	Stomach Mucosa	stomach
44	chr10:90695800-90701800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:90695800-90703200	Weak transcription	Dnd41	blood
46	chr10:90695800-90704000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr10:90695800-90704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:90695800-90704600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:90695800-90707400	Strong transcription	Fetal Intestine Large	intestine
50	chr10:90695800-90708200	Weak transcription	Liver	Liver

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