Variant report

Variant	rs595435
Chromosome Location	chr11:84801438-84801439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10501586	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10792792	0.88[CEU][hapmap]
rs10792794	0.92[CEU][hapmap];0.87[YRI][hapmap]
rs10898336	0.88[CEU][hapmap]
rs10898343	0.88[CEU][hapmap]
rs10898359	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10898360	0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10898364	0.82[CHB][hapmap]
rs10898383	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs11234273	0.82[JPT][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs11234289	0.92[ASW][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs1227842	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227843	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1237921	0.83[CEU][hapmap]
rs1238728	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1377303	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1452928	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[ASN][1000 genomes]
rs1823777	0.92[ASW][hapmap];0.82[CHB][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs1826613	0.92[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1940122	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs1940123	0.88[CEU][hapmap]
rs1940133	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs2155410	0.88[CEU][hapmap]
rs2155411	0.88[CEU][hapmap]
rs2155412	0.88[CEU][hapmap]
rs2253167	0.88[CEU][hapmap]
rs2444254	0.88[CEU][hapmap]
rs2444255	0.88[CEU][hapmap]
rs2453151	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2509053	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs2509056	0.81[CEU][hapmap]
rs2513242	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3862779	0.88[CEU][hapmap]
rs490286	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944507	0.82[CHB][hapmap]
rs527389	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs542892	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs543740	0.96[CEU][hapmap];0.88[GIH][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs555156	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs555259	0.92[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs560214	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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560587	0.85[EUR][1000 genomes]
rs567594	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs568330	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs568641	0.96[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573650	0.90[CEU][hapmap]
rs574671	0.88[CEU][hapmap]
rs575189	0.88[CEU][hapmap]
rs577950	0.88[CEU][hapmap]
rs578782	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs582884	0.85[ASW][hapmap];0.88[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs589093	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs592166	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap]
rs592622	0.85[ASW][hapmap];0.96[CEU][hapmap];0.91[MEX][hapmap];0.88[YRI][hapmap]
rs593800	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs594122	0.85[EUR][1000 genomes]
rs596556	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs597592	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs601375	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs605652	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs607864	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs613265	0.92[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs613315	0.85[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap]
rs614689	0.82[CHB][hapmap]
rs617231	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs621007	0.88[CEU][hapmap]
rs625495	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs626013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs626531	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs626700	0.92[CEU][hapmap];0.88[YRI][hapmap]
rs630948	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs631370	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs632351	0.85[EUR][1000 genomes]
rs633562	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635032	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs641655	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs641958	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs643891	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs646324	0.87[CEU][hapmap]
rs648506	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs649468	0.84[CEU][hapmap]
rs650374	0.92[CEU][hapmap]
rs651661	0.88[CEU][hapmap]
rs652830	0.96[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs658749	0.87[CEU][hapmap]
rs6592215	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs6592216	0.88[CEU][hapmap]
rs6592221	0.88[CEU][hapmap]
rs6592222	0.88[CEU][hapmap]
rs660274	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs666735	0.96[CEU][hapmap];0.82[CHB][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs670998	0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap]
rs675160	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs675217	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs675255	0.87[CEU][hapmap]
rs679745	0.92[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs685294	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs686009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs687695	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs688329	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs689226	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs694142	0.84[CEU][hapmap]
rs7102107	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]
rs7110248	0.93[YRI][hapmap]
rs7118119	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]
rs7126522	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs7127990	0.88[CEU][hapmap];0.87[TSI][hapmap]
rs7948646	0.92[ASW][hapmap];0.82[CHB][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs9634002	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9634003	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9634004	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9634018	0.92[ASW][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][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
rs595435	ANKRD42	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84799000-84801800	Weak transcription	NHEK	skin
2	chr11:84800000-84802400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:84801400-84801600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:84801400-84802200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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