Variant report

Variant	rs10793239
Chromosome Location	chr11:76890242-76890243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:76890100-76890250	GM06990	blood:	n/a	n/a
2	CEBPB	chr11:76890040-76890380	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MYO7A	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10466706	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10466707	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10899356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899359	0.80[AMR][1000 genomes]
rs1109162	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1109163	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109977	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11237106	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11237109	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12577334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577724	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12792197	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1944034	0.81[ASN][1000 genomes]
rs2076968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2077198	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155179	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2186659	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2276283	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2276285	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2276286	0.94[CEU][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2276287	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3740762	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3781691	0.85[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3781694	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3781695	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4944148	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945155	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945159	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs4945160	0.90[CEU][hapmap]
rs7117606	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7122023	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7932992	0.85[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7943136	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947922	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952285	0.80[ASN][1000 genomes]
rs867508	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs948958	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs948963	0.87[CEU][hapmap];0.80[JPT][hapmap]
rs948968	0.87[CEU][hapmap]
rs948970	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
2	chr11:76883800-76898400	Weak transcription	Colonic Mucosa	Colon
3	chr11:76885200-76896000	Strong transcription	Fetal Intestine Large	intestine
4	chr11:76885400-76896000	Strong transcription	Fetal Intestine Small	intestine
5	chr11:76886000-76894600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:76887000-76895000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:76887400-76891600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:76887600-76891600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:76887600-76902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:76887800-76894000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:76887800-76899600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:76887800-76902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:76888200-76893400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:76888200-76894000	Strong transcription	Spleen	Spleen
15	chr11:76888400-76890800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:76888600-76896000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:76889200-76894600	Strong transcription	Pancreas	Pancrea
18	chr11:76889600-76890600	Enhancers	Adipose Nuclei	Adipose
19	chr11:76889800-76890600	Enhancers	HepG2	liver
20	chr11:76889800-76890800	Enhancers	Ovary	ovary
21	chr11:76890000-76890600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:76890000-76890600	Enhancers	Right Ventricle	heart
23	chr11:76890000-76891000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:76890000-76891000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:76890000-76891200	Genic enhancers	Placenta	Placenta
26	chr11:76890000-76891800	Enhancers	Fetal Muscle Leg	muscle
27	chr11:76890000-76892400	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:76890200-76890600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:76890200-76890600	Enhancers	Liver	Liver
30	chr11:76890200-76890600	Enhancers	Left Ventricle	heart
31	chr11:76890200-76890600	Enhancers	Psoas Muscle	Psoas
32	chr11:76890200-76890800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr11:76890200-76890800	Genic enhancers	Gastric	stomach
34	chr11:76890200-76892200	Weak transcription	Primary monocytes fromperipheralblood	blood

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