Variant report

Variant	rs12802853
Chromosome Location	chr11:76908319-76908320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76901603..76903612-chr11:76907074..76909013,2	K562	blood:
2	chr11:76907456..76910325-chr11:76914142..76917055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137474	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10466706	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10466707	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899356	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10899357	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899358	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899359	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109162	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1109163	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1109977	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237106	0.85[EUR][1000 genomes]
rs11237109	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11237110	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237111	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237118	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11237119	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237120	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11237121	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577334	0.82[EUR][1000 genomes]
rs12577724	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12792197	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12806868	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1944034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2076968	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077198	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2155179	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2186659	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2276283	0.84[EUR][1000 genomes]
rs2276285	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276286	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276287	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2276288	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276293	0.88[ASN][1000 genomes]
rs2276294	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740762	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3781689	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781690	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781691	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781692	0.81[ASN][1000 genomes]
rs3781693	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781694	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781695	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4944148	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945155	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4945157	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945158	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945159	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945160	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56251502	0.81[ASN][1000 genomes]
rs7117606	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7122023	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7481443	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7927472	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7932992	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7933106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7942355	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943136	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7947922	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7952285	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs867505	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867507	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867508	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948958	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948963	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948970	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	nsv897936	chr11:76900813-76935002	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
2	chr11:76890800-76918400	Weak transcription	Ovary	ovary
3	chr11:76899800-76928200	Strong transcription	Liver	Liver
4	chr11:76903600-76928000	Weak transcription	Colonic Mucosa	Colon
5	chr11:76903600-76928600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:76904000-76909600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:76904000-76910600	Weak transcription	HepG2	liver
8	chr11:76904200-76927600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:76904600-76913200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:76904600-76915600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:76904600-76927800	Strong transcription	Fetal Intestine Large	intestine
12	chr11:76905000-76909600	Weak transcription	Esophagus	oesophagus
13	chr11:76906000-76908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:76906400-76908400	Enhancers	Stomach Mucosa	stomach
15	chr11:76906600-76909200	Strong transcription	Placenta	Placenta
16	chr11:76906600-76909600	Weak transcription	Pancreas	Pancrea
17	chr11:76906600-76913200	Weak transcription	Fetal Stomach	stomach
18	chr11:76906600-76915600	Weak transcription	Right Ventricle	heart
19	chr11:76906800-76908400	Weak transcription	Spleen	Spleen
20	chr11:76907000-76911600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:76907000-76918800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:76907400-76911400	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:76908000-76908400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:76908000-76909800	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:76908000-76910200	Strong transcription	Adipose Nuclei	Adipose
26	chr11:76908000-76912600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:76908200-76908400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:76908200-76908400	Strong transcription	Gastric	stomach

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