Variant report

Variant	rs1452928
Chromosome Location	chr11:84822321-84822322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10501586	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap]
rs10898359	0.92[ASN][1000 genomes]
rs10898360	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10898364	0.82[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs10898383	0.90[CHD][hapmap]
rs11234273	0.82[CEU][hapmap];0.84[ASN][1000 genomes]
rs1227842	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs1227843	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1238728	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs1377302	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1377303	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[ASN][1000 genomes]
rs1823777	0.82[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap]
rs1826613	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[ASN][1000 genomes]
rs2453151	0.82[CHB][hapmap]
rs490286	1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4944507	0.82[CHB][hapmap];0.87[GIH][hapmap]
rs555156	0.92[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs555259	0.82[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs560214	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[ASN][1000 genomes]
rs568641	0.90[CHD][hapmap]
rs578782	0.82[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs589093	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs592166	0.82[CHB][hapmap];0.80[YRI][hapmap]
rs593800	0.82[CHB][hapmap]
rs595435	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[ASN][1000 genomes]
rs601375	0.84[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs614689	0.84[ASW][hapmap];0.82[CHB][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs617231	0.85[CHB][hapmap];0.90[CHD][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs626531	0.85[CHB][hapmap];0.89[ASN][1000 genomes]
rs630948	1.00[CHB][hapmap]
rs631370	0.85[CHB][hapmap];0.90[CHD][hapmap];0.80[YRI][hapmap]
rs633562	0.90[ASN][1000 genomes]
rs641655	0.85[CHB][hapmap];0.90[CHD][hapmap]
rs641958	0.82[CHB][hapmap]
rs660274	0.82[CHB][hapmap]
rs666735	0.82[CHB][hapmap]
rs675160	0.87[ASN][1000 genomes]
rs675217	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs679745	0.85[CHB][hapmap];0.90[CHD][hapmap];0.91[MKK][hapmap];0.92[ASN][1000 genomes]
rs686009	1.00[CHB][hapmap]
rs7102107	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[ASN][1000 genomes]
rs7110248	0.82[CEU][hapmap]
rs7118119	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[ASN][1000 genomes]
rs7126522	0.81[CEU][hapmap]
rs7948646	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap]
rs9634002	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs9634003	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs9634004	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs9634018	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.90[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	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
2	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
3	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
4	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
5	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

Variant related diseases (count:1)

Disease	PMID	Source
Hip geometry	17903296	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84820000-84823200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:84821600-84822400	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:84821600-84823000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:84821600-84825000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:84821800-84822400	Enhancers	Fetal Brain Female	brain
6	chr11:84821800-84822600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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