Variant report

Variant	rs12775232
Chromosome Location	chr10:90784418-90784419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10887882	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887883	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571011	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1571013	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1571019	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1810763	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1926191	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1926192	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1926193	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1926194	0.83[AFR][1000 genomes]
rs1977389	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2031612	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147420	0.82[AFR][1000 genomes]
rs2148286	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2148287	0.83[AFR][1000 genomes]
rs2182408	0.82[AFR][1000 genomes]
rs2296600	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296603	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2862833	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35150762	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3752985	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3752986	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4406737	0.82[AFR][1000 genomes]
rs7069750	0.82[ASN][1000 genomes]
rs7089558	0.86[ASN][1000 genomes]
rs7095466	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096473	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7901656	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7910435	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7911226	0.82[ASN][1000 genomes]
rs7911752	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs913043	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9658741	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9658742	0.81[ASN][1000 genomes]
rs982764	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12775232	FAS	cis	Muscle Skeletal	GTEx
rs12775232	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs12775232	FAS	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90754000-90789600	Weak transcription	A549	lung
2	chr10:90761800-90786200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:90762400-90785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:90762600-90786000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:90766200-90785600	Strong transcription	GM12878-XiMat	blood
6	chr10:90767600-90786600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:90768400-90785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:90771600-90784800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:90771600-90789600	Weak transcription	Brain Anterior Caudate	brain
10	chr10:90771800-90808600	Weak transcription	Primary T cells from cord blood	blood
11	chr10:90772400-90795000	Weak transcription	Placenta	Placenta
12	chr10:90772600-90784600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:90772600-90789600	Weak transcription	Fetal Stomach	stomach
14	chr10:90772600-90791800	Weak transcription	Esophagus	oesophagus
15	chr10:90772600-90792000	Weak transcription	Colonic Mucosa	Colon
16	chr10:90772600-90795800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:90774600-90784800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:90775000-90789400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:90775200-90789400	Weak transcription	NH-A	brain
20	chr10:90776200-90789400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:90776600-90792600	Weak transcription	Right Ventricle	heart
22	chr10:90776800-90789400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:90778000-90791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:90779200-90791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:90780200-90785200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:90780200-90791400	Weak transcription	Spleen	Spleen
27	chr10:90780400-90784600	Weak transcription	Thymus	Thymus
28	chr10:90780400-90786400	Weak transcription	Fetal Brain Male	brain
29	chr10:90780400-90789600	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:90780400-90790600	Weak transcription	Hela-S3	cervix
31	chr10:90780600-90785000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:90780600-90786400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:90780600-90789400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:90780600-90789400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:90780600-90789400	Weak transcription	Adipose Nuclei	Adipose
36	chr10:90780600-90789600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:90780600-90789600	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:90780600-90789600	Weak transcription	Left Ventricle	heart
39	chr10:90780600-90789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:90780600-90791000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:90780600-90791800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr10:90780600-90791800	Weak transcription	HSMM	muscle
43	chr10:90780600-90792000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:90780600-90792400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:90780800-90784600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr10:90780800-90786200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:90780800-90791800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:90780800-90804200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr10:90781000-90786600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:90781000-90788800	Weak transcription	Fetal Lung	lung

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