Variant report

Variant	rs1365475
Chromosome Location	chr2:64559621-64559622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10182618	0.81[ASN][1000 genomes]
rs10187442	0.81[ASN][1000 genomes]
rs10203643	0.87[CHB][hapmap]
rs1030407	0.81[ASN][1000 genomes]
rs1030409	0.80[ASN][1000 genomes]
rs11683866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1365476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426698	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1426699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426702	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426703	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2059630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278183	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278184	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2555423	0.81[ASN][1000 genomes]
rs4485554	0.81[ASN][1000 genomes]
rs4597511	0.81[ASN][1000 genomes]
rs4671562	0.83[ASN][1000 genomes]
rs4671563	0.87[CHB][hapmap]
rs6546064	0.81[ASN][1000 genomes]
rs6546065	0.81[ASN][1000 genomes]
rs6714101	0.82[ASN][1000 genomes]
rs6731818	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561343	0.81[ASN][1000 genomes]
rs7601758	0.85[ASN][1000 genomes]
rs7601803	0.85[ASN][1000 genomes]
rs890478	0.82[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs919122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919123	0.82[ASN][1000 genomes]
rs919124	0.82[ASN][1000 genomes]
rs919125	0.81[ASN][1000 genomes]
rs919127	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs930020	0.81[ASN][1000 genomes]
rs9917300	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1365475	ADAM23	trans	brain	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64554800-64565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:64556800-64559800	Enhancers	Fetal Intestine Large	intestine
4	chr2:64556800-64559800	Enhancers	Placenta	Placenta
5	chr2:64557800-64559800	Enhancers	Fetal Intestine Small	intestine
6	chr2:64558200-64559800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:64558200-64566000	Weak transcription	HMEC	breast
8	chr2:64558400-64559800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:64558400-64560000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:64558600-64559800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:64558600-64560000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:64559200-64563400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:64559400-64566000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:64559600-64559800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:64559600-64560000	Weak transcription	Liver	Liver
16	chr2:64559600-64566000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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