Variant report

Variant	rs315535
Chromosome Location	chr1:84820409-84820410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84819600..84821266-chr1:84826643..84829236,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1067072	0.92[ASN][1000 genomes]
rs1246546	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246549	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246550	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs160612	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690702	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1699157	0.92[ASN][1000 genomes]
rs170278	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17131613	0.85[GIH][hapmap]
rs172735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17536473	1.00[CEU][hapmap]
rs178367	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs178368	0.93[ASN][1000 genomes]
rs186405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055115	1.00[CEU][hapmap]
rs315520	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315521	0.93[ASN][1000 genomes]
rs315522	0.93[ASN][1000 genomes]
rs315523	0.93[ASN][1000 genomes]
rs315524	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs315525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs315526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315527	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs315528	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs315530	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315532	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs315533	0.99[ASN][1000 genomes]
rs315536	0.93[ASN][1000 genomes]
rs315538	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs315539	0.99[ASN][1000 genomes]
rs315540	0.96[ASN][1000 genomes]
rs315541	0.80[AMR][1000 genomes]
rs315542	0.85[AMR][1000 genomes]
rs315546	0.93[ASN][1000 genomes]
rs315547	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs315548	0.93[ASN][1000 genomes]
rs315549	0.93[ASN][1000 genomes]
rs315552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315553	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.99[ASN][1000 genomes]
rs315554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs315555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs315556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316660	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316661	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs316663	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316665	0.92[ASN][1000 genomes]
rs511087	0.93[ASN][1000 genomes]
rs592464	0.92[ASN][1000 genomes]
rs786653	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs315535	HIVEP2	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84795800-84827000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:84814200-84828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:84814200-84831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:84814600-84825600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:84816600-84821000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:84817600-84826200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:84820400-84821200	Weak transcription	NH-A	brain

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