Variant report

Variant	rs7572592
Chromosome Location	chr2:36937005-36937006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014584	1.00[ASN][1000 genomes]
rs10174423	0.85[CEU][hapmap]
rs10179017	1.00[ASN][1000 genomes]
rs10197807	0.85[CEU][hapmap]
rs10197992	0.85[CEU][hapmap]
rs10207705	0.85[CEU][hapmap]
rs10209055	1.00[ASN][1000 genomes]
rs11124545	1.00[ASN][1000 genomes]
rs11692052	1.00[ASN][1000 genomes]
rs12618630	1.00[ASN][1000 genomes]
rs13398292	1.00[ASN][1000 genomes]
rs13423835	1.00[ASN][1000 genomes]
rs2372713	1.00[ASN][1000 genomes]
rs28692629	1.00[ASN][1000 genomes]
rs4670171	1.00[ASN][1000 genomes]
rs4670610	1.00[ASN][1000 genomes]
rs4670618	1.00[ASN][1000 genomes]
rs6721362	1.00[ASN][1000 genomes]
rs7355582	0.85[CEU][hapmap]
rs7355709	0.85[CEU][hapmap]
rs7579256	0.85[CEU][hapmap]
rs7593468	0.85[CEU][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv873878	chr2:36908661-36942266	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7572592	PRKD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36929000-36938600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36931800-36937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:36931800-36937200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:36934800-36939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36934800-36951400	Weak transcription	Ovary	ovary
6	chr2:36935800-36939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:36936000-36937200	Enhancers	NHDF-Ad	bronchial
8	chr2:36936000-36938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:36936200-36937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:36936200-36938600	Weak transcription	Osteobl	bone
11	chr2:36936800-36940200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:36937000-36939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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