Variant report

Variant	rs12513240
Chromosome Location	chr4:91996010-91996011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10019283	1.00[CHB][hapmap]
rs10024581	0.95[CHB][hapmap]
rs10856882	0.95[CHB][hapmap];0.94[CHD][hapmap]
rs11097302	0.90[CHB][hapmap]
rs11732866	0.86[CHD][hapmap]
rs11936848	1.00[CHB][hapmap]
rs11936964	0.90[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap]
rs11941628	1.00[CHB][hapmap]
rs12503626	0.95[CHB][hapmap]
rs12508962	0.95[CHB][hapmap]
rs12646841	0.86[CHD][hapmap]
rs13104402	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs13114934	0.83[CHD][hapmap]
rs1541365	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs1541366	0.90[CHB][hapmap]
rs17018021	0.86[CHD][hapmap]
rs17018060	0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap]
rs17018078	0.83[CHD][hapmap]
rs17018144	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs1988476	0.95[CHB][hapmap]
rs2107008	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs2189185	0.95[CHB][hapmap]
rs2870298	0.95[CHB][hapmap]
rs34123355	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4693264	0.86[CHD][hapmap]
rs6532278	0.95[CHB][hapmap]
rs6532279	0.95[CHB][hapmap]
rs6838070	0.95[CHB][hapmap]
rs6847141	0.95[CHB][hapmap]
rs6855885	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6856265	0.81[ASN][1000 genomes]
rs726587	0.95[CHB][hapmap]
rs7434671	0.90[CHB][hapmap]
rs7660020	0.84[CEU][hapmap]
rs7667634	0.95[CHB][hapmap];0.94[CHD][hapmap]
rs7683588	0.95[CHB][hapmap]
rs7683693	0.95[CHB][hapmap]
rs7685890	0.86[CHB][hapmap];0.97[CHD][hapmap]
rs7686812	0.95[CHB][hapmap]
rs7698968	0.95[CHB][hapmap]
rs7699169	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs9991847	0.94[CHB][hapmap]
rs9998242	0.95[CHB][hapmap]

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	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv10534	chr4:91966600-92009182	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12513240	HSD17B13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91995000-91996400	Enhancers	Colon Smooth Muscle	Colon

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