Variant report

Variant	rs197912
Chromosome Location	chr17:44989888-44989889
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44982902..44984528-chr17:44989442..44992407,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1047779	0.87[ASN][1000 genomes]
rs1052504	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1052586	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs10853085	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10853086	0.86[EUR][1000 genomes]
rs10853087	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11079744	0.82[EUR][1000 genomes]
rs11079745	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs11652318	0.85[ASN][1000 genomes]
rs11654971	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11655668	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11656362	0.85[ASN][1000 genomes]
rs11658276	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11869840	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12601886	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12940071	0.87[ASN][1000 genomes]
rs1618989	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1623402	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662576	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662577	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662594	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662596	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662597	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17608961	0.85[ASN][1000 genomes]
rs1838105	0.91[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs1867237	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs189899	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs197913	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs197915	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197917	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs197918	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs197919	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs197922	0.91[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs197923	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs197925	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs197926	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2003538	0.84[ASN][1000 genomes]
rs2003539	0.87[ASN][1000 genomes]
rs2072317	0.81[EUR][1000 genomes]
rs2191033	0.90[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2316330	0.85[ASN][1000 genomes]
rs2317997	0.87[ASN][1000 genomes]
rs2920396	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2920397	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35707546	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3760377	0.85[ASN][1000 genomes]
rs3785888	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3809854	0.85[ASN][1000 genomes]
rs3851784	0.85[ASN][1000 genomes]
rs3851785	0.85[ASN][1000 genomes]
rs3851786	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3851787	0.83[ASN][1000 genomes]
rs3885731	0.81[EUR][1000 genomes]
rs3890958	0.81[EUR][1000 genomes]
rs4381655	0.85[ASN][1000 genomes]
rs4602097	0.85[ASN][1000 genomes]
rs4968248	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4968250	0.85[ASN][1000 genomes]
rs4968285	0.85[ASN][1000 genomes]
rs4968286	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4968287	0.85[ASN][1000 genomes]
rs4968288	0.87[ASN][1000 genomes]
rs62075889	0.87[ASN][1000 genomes]
rs6504622	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7213526	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7225428	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7342957	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736603	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs736604	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs740617	0.87[ASN][1000 genomes]
rs8065527	0.80[EUR][1000 genomes]
rs9889741	0.87[ASN][1000 genomes]
rs9889762	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9898981	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs9911967	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs197912	CBX1	cis	cerebellum	SCAN
rs197912	PLCD3	cis	parietal	SCAN
rs197912	GOSR2	cis	multi-tissue	Pritchard
rs197912	C17orf104	cis	cerebellum	SCAN
rs197912	KRT31	cis	parietal	SCAN
rs197912	MYL4	cis	multi-tissue	Pritchard
rs197912	C17orf53	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44988200-44999800	Weak transcription	Right Ventricle	heart
2	chr17:44988400-44990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:44988400-45000000	Weak transcription	Pancreas	Pancrea
4	chr17:44989400-44990400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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