Variant report

Variant	rs7118119
Chromosome Location	chr11:84787554-84787555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10501586	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10792794	0.81[YRI][hapmap]
rs10898350	0.85[CEU][hapmap]
rs10898359	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898360	1.00[CEU][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10898364	0.82[CEU][hapmap]
rs10898383	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11234273	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234289	1.00[ASW][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11823251	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1227842	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs1227843	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs1238728	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs1377302	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1377303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1452928	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[ASN][1000 genomes]
rs1823777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1826613	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs490286	0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs4944507	0.94[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs542892	0.92[ASW][hapmap];0.85[CHB][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap]
rs543740	0.85[CHB][hapmap]
rs555156	0.85[CHB][hapmap];0.81[TSI][hapmap]
rs555259	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.88[YRI][hapmap];0.90[ASN][1000 genomes]
rs560214	0.92[ASW][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs567594	0.85[CHB][hapmap]
rs568641	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs578782	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs582884	0.87[LWK][hapmap];0.84[MKK][hapmap];0.94[YRI][hapmap]
rs589093	0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs592622	0.94[MKK][hapmap];0.82[YRI][hapmap]
rs593800	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs595435	0.92[ASW][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs601375	0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs605652	0.82[CHB][hapmap]
rs607864	0.88[YRI][hapmap]
rs613315	0.91[MKK][hapmap];0.82[YRI][hapmap]
rs617231	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs626531	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs626700	0.82[YRI][hapmap]
rs630948	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs631370	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs633562	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs641655	0.92[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs648506	0.93[YRI][hapmap]
rs652830	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs660274	0.82[YRI][hapmap]
rs666735	0.84[YRI][hapmap]
rs675160	0.88[ASN][1000 genomes]
rs675217	0.85[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs679745	0.84[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs686009	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7102107	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110248	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7126522	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7948646	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9634002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9634018	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv430415	chr11:84661652-84833852	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1055097	chr11:84672444-84810441	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1040393	chr11:84708402-84866594	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv527535	chr11:84724795-84895033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv528491	chr11:84724795-84895033	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7118119	ANKRD42	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84787000-84788200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:84787000-84789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:84787200-84788000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:84787200-84788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:84787200-84788200	Enhancers	NH-A	brain
6	chr11:84787200-84788400	Enhancers	Fetal Heart	heart
7	chr11:84787200-84788600	Enhancers	NHDF-Ad	bronchial
8	chr11:84787200-84789400	Enhancers	NHEK	skin
9	chr11:84787400-84787600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:84787400-84787600	Enhancers	Osteobl	bone
11	chr11:84787400-84787800	Enhancers	Right Atrium	heart
12	chr11:84787400-84788000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:84787400-84788000	Enhancers	Left Ventricle	heart
14	chr11:84787400-84788000	Enhancers	Psoas Muscle	Psoas
15	chr11:84787400-84788200	Enhancers	HSMMtube	muscle
16	chr11:84787400-84788600	Enhancers	HMEC	breast

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