Variant report

Variant	rs472652
Chromosome Location	chr1:166564305-166564306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166559872..166561580-chr1:166564185..166567051,2	K562	blood:
2	chr1:166563481..166565697-chr1:166594929..166597318,2	K562	blood:
3	chr1:166552002..166554385-chr1:166564291..166566907,2	K562	blood:
4	chr1:166557976..166561372-chr1:166563125..166565685,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10494466	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10800253	0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1631056	0.91[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs17472904	0.93[ASN][1000 genomes]
rs3125820	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3904701	0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4068473	0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4393133	0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4514220	0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4657570	0.86[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs471764	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs473746	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs475264	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs476048	0.85[ASN][1000 genomes]
rs482782	0.92[ASN][1000 genomes]
rs482850	0.92[ASN][1000 genomes]
rs482905	0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs483138	0.95[ASN][1000 genomes]
rs484070	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs496095	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs497142	0.85[ASN][1000 genomes]
rs500437	0.93[ASN][1000 genomes]
rs500568	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs503960	0.92[ASN][1000 genomes]
rs505012	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs505135	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs511809	0.95[ASN][1000 genomes]
rs514307	0.95[ASN][1000 genomes]
rs519135	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs524397	0.93[ASN][1000 genomes]
rs525948	0.99[ASN][1000 genomes]
rs527241	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs529740	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs530513	0.85[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs530690	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs532412	0.95[ASN][1000 genomes]
rs535889	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs536773	0.93[ASN][1000 genomes]
rs537720	0.98[ASN][1000 genomes]
rs537782	0.95[ASN][1000 genomes]
rs553928	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs556269	0.99[ASN][1000 genomes]
rs563206	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs566841	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs568776	0.95[ASN][1000 genomes]
rs568821	0.95[ASN][1000 genomes]
rs571669	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs579545	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs580432	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6427018	0.91[ASN][1000 genomes]
rs7539202	0.86[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872511	chr1:166505186-166590046	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872512	chr1:166532565-166581706	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv872513	chr1:166532565-166590046	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872514	chr1:166532565-166595209	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv872515	chr1:166532565-166595692	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv872516	chr1:166536198-166590046	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv872517	chr1:166539001-166590046	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv2756869	chr1:166543542-166601778	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv872519	chr1:166545275-166616786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv872518	chr1:166545275-166623180	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv34401	chr1:166546342-166617601	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv872520	chr1:166546851-166590046	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs472652	ADCY10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166559800-166569800	Weak transcription	K562	blood

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