Variant report

Variant	rs2148286
Chromosome Location	chr10:90759924-90759925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1159120	0.81[ASN][1000 genomes]
rs12775232	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1571011	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1571013	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1926191	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1926192	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1926193	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1926194	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1977389	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2031612	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2147418	0.81[ASN][1000 genomes]
rs2147420	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2148287	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2182408	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2296600	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296603	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3752986	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3781202	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4406737	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4406738	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7069750	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7095466	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7096473	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7910435	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7911752	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7920305	0.81[ASN][1000 genomes]
rs913043	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9658741	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9658742	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv551841	chr10:90759724-90775756	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2148286	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs2148286	FAS	cis	Muscle Skeletal	GTEx
rs2148286	FAS	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
2	chr10:90752000-90761600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
4	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
5	chr10:90752200-90760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:90753000-90761400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:90753400-90761600	Weak transcription	Aorta	Aorta
10	chr10:90753800-90760400	Weak transcription	Brain Anterior Caudate	brain
11	chr10:90754000-90760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:90754000-90760800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:90754000-90761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:90754000-90761000	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:90754000-90761200	Weak transcription	NH-A	brain
16	chr10:90754000-90779400	Weak transcription	HepG2	liver
17	chr10:90754000-90789600	Weak transcription	A549	lung
18	chr10:90754200-90760400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:90754200-90761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:90754400-90761200	Weak transcription	HSMM	muscle
23	chr10:90755400-90760800	Weak transcription	Fetal Thymus	thymus
24	chr10:90755400-90761200	Weak transcription	Thymus	Thymus
25	chr10:90755600-90761400	Weak transcription	Right Ventricle	heart
26	chr10:90755600-90762600	Weak transcription	Liver	Liver
27	chr10:90755600-90768200	Weak transcription	Lung	lung
28	chr10:90755600-90771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:90755600-90776000	Weak transcription	Left Ventricle	heart
30	chr10:90755600-90776200	Weak transcription	Pancreas	Pancrea
31	chr10:90755800-90760200	Weak transcription	Adipose Nuclei	Adipose
32	chr10:90755800-90760400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:90755800-90760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:90755800-90760600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:90755800-90762400	Weak transcription	Hela-S3	cervix
36	chr10:90756200-90760400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:90756200-90781800	Weak transcription	Stomach Mucosa	stomach
38	chr10:90756800-90760400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:90756800-90761000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:90756800-90769200	Weak transcription	Colonic Mucosa	Colon
41	chr10:90757000-90760400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:90757000-90760800	Weak transcription	Primary T cells from cord blood	blood
43	chr10:90757000-90760800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:90757000-90770800	Weak transcription	Primary B cells from cord blood	blood
45	chr10:90757200-90760400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:90757200-90760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr10:90757200-90760600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:90757200-90760600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:90757200-90760600	Weak transcription	Small Intestine	intestine
50	chr10:90757200-90760800	Weak transcription	Primary monocytes fromperipheralblood	blood

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