Variant report

Variant	rs12363842
Chromosome Location	chr11:76957199-76957200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11237141	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237142	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237160	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11237162	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237164	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125619	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11512967	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1225478	0.91[ASN][1000 genomes]
rs12361757	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363707	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363944	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12366261	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377472	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597954	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1622364	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670446	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670449	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670450	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670456	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670458	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670461	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670462	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17824184	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793468	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793471	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793472	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793487	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793490	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2156567	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602476	0.87[ASN][1000 genomes]
rs2602483	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602487	0.96[ASN][1000 genomes]
rs2725820	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2725822	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725825	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725828	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34880271	0.91[ASN][1000 genomes]
rs4375461	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472691	0.96[ASN][1000 genomes]
rs479104	0.87[ASN][1000 genomes]
rs493256	0.91[ASN][1000 genomes]
rs494289	0.91[ASN][1000 genomes]
rs4945161	0.81[EUR][1000 genomes]
rs508662	0.96[ASN][1000 genomes]
rs51500	0.91[ASN][1000 genomes]
rs522015	0.91[ASN][1000 genomes]
rs523481	0.96[ASN][1000 genomes]
rs535008	0.87[ASN][1000 genomes]
rs552323	0.91[ASN][1000 genomes]
rs557484	0.87[ASN][1000 genomes]
rs558470	0.96[ASN][1000 genomes]
rs560571	0.87[ASN][1000 genomes]
rs561386	0.96[ASN][1000 genomes]
rs562845	0.96[ASN][1000 genomes]
rs563731	0.87[ASN][1000 genomes]
rs572485	0.96[ASN][1000 genomes]
rs576220	0.96[ASN][1000 genomes]
rs580624	0.91[ASN][1000 genomes]
rs592602	0.96[ASN][1000 genomes]
rs598801	0.91[ASN][1000 genomes]
rs644551	0.96[ASN][1000 genomes]
rs649040	0.96[ASN][1000 genomes]
rs653792	0.91[ASN][1000 genomes]
rs66518011	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66540426	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66728428	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674259	0.91[ASN][1000 genomes]
rs683455	0.87[ASN][1000 genomes]
rs683762	0.91[ASN][1000 genomes]
rs684793	0.87[ASN][1000 genomes]
rs686068	0.91[ASN][1000 genomes]
rs689108	0.87[ASN][1000 genomes]
rs7118943	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs883224	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs883680	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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
4	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
5	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76956000-76958200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:76956200-76963600	Weak transcription	Stomach Mucosa	stomach
3	chr11:76956400-76957200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:76956400-76960200	Weak transcription	HMEC	breast
5	chr11:76956400-76960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:76956400-76960400	Weak transcription	Liver	Liver
7	chr11:76956400-76960400	Weak transcription	NH-A	brain
8	chr11:76956400-76960600	Weak transcription	NHLF	lung
9	chr11:76956400-76964800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:76956600-76958200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:76956600-76960400	Weak transcription	HUVEC	blood vessel
12	chr11:76956600-76960400	Weak transcription	Osteobl	bone
13	chr11:76956600-76960600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:76956600-76960800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:76956800-76960200	Weak transcription	NHEK	skin
16	chr11:76956800-76960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:76956800-76960600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:76956800-76961600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:76957000-76960400	Weak transcription	NHDF-Ad	bronchial
20	chr11:76957000-76961800	Weak transcription	HepG2	liver

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