Variant report

Variant	rs1590305
Chromosome Location	chr13:38035189-38035190
allele	A/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:47)

rs_ID	r²[population]
rs1107244	0.87[ASN][1000 genomes]
rs12584046	0.87[ASN][1000 genomes]
rs12584670	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1322804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570387	0.87[ASN][1000 genomes]
rs17055629	0.84[ASN][1000 genomes]
rs17055871	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.87[ASN][1000 genomes]
rs1923716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2323487	0.87[ASN][1000 genomes]
rs3764077	0.87[ASN][1000 genomes]
rs3764078	0.83[ASN][1000 genomes]
rs55903929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56098078	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58722541	0.88[ASN][1000 genomes]
rs61946575	0.87[ASN][1000 genomes]
rs61946576	0.87[ASN][1000 genomes]
rs61946592	0.87[ASN][1000 genomes]
rs61946593	0.87[ASN][1000 genomes]
rs61947266	0.88[ASN][1000 genomes]
rs61947269	0.88[ASN][1000 genomes]
rs6563550	0.87[ASN][1000 genomes]
rs6563551	0.87[ASN][1000 genomes]
rs73180681	0.87[ASN][1000 genomes]
rs7324216	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7334752	0.83[ASN][1000 genomes]
rs7337526	0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs7338422	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7984882	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7986069	0.81[ASN][1000 genomes]
rs7994129	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7995332	0.85[ASN][1000 genomes]
rs8002916	0.89[ASN][1000 genomes]
rs875082	0.87[ASN][1000 genomes]
rs9547877	0.84[ASN][1000 genomes]
rs9576269	0.84[ASN][1000 genomes]
rs9594204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9594212	0.85[ASN][1000 genomes]
rs9594214	0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs9603185	0.84[ASN][1000 genomes]
rs9603186	0.83[ASN][1000 genomes]
rs9603191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603194	0.91[ASN][1000 genomes]
rs9603195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9603210	0.92[ASN][1000 genomes]
rs9603213	0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs9603214	0.85[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hip geometry	17903296	GWAS catalog

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38033400-38035200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr13:38034200-38035200	Enhancers	Colon Smooth Muscle	Colon

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