Variant report

Variant	rs8042236
Chromosome Location	chr15:72019591-72019592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10152215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10438366	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11072323	0.89[GIH][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap]
rs11072324	1.00[JPT][hapmap]
rs11632417	0.89[EUR][1000 genomes]
rs11632479	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11636972	1.00[JPT][hapmap]
rs12101956	1.00[JPT][hapmap]
rs13379892	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17811015	1.00[JPT][hapmap]
rs1872056	1.00[JPT][hapmap]
rs2173873	0.91[EUR][1000 genomes]
rs4776572	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4777452	1.00[JPT][hapmap]
rs62023265	0.89[EUR][1000 genomes]
rs6494961	1.00[JPT][hapmap]
rs7176057	1.00[JPT][hapmap]
rs8027192	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8028319	0.89[JPT][hapmap]
rs8033309	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs8039956	0.89[EUR][1000 genomes]
rs868010	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs905076	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9920304	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv904335	chr15:72018469-72064719	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8042236	TLE3	cis	parietal	SCAN
rs8042236	SLC24A1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72000800-72023400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:72002400-72022600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:72002600-72022600	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:72005800-72024600	Weak transcription	Left Ventricle	heart
5	chr15:72009200-72030000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:72009800-72020800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:72010200-72020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:72010200-72023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:72017000-72048800	Weak transcription	Placenta	Placenta
10	chr15:72018000-72020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:72018000-72021000	Weak transcription	NHEK	skin
12	chr15:72018000-72022200	Weak transcription	NHLF	lung
13	chr15:72018200-72022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:72018200-72024800	Weak transcription	A549	lung
15	chr15:72018400-72020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:72018400-72021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:72018800-72021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:72018800-72022200	Weak transcription	Hela-S3	cervix
19	chr15:72019200-72019600	Enhancers	Fetal Heart	heart
20	chr15:72019200-72023800	Weak transcription	Fetal Intestine Large	intestine
21	chr15:72019200-72030400	Weak transcription	Lung	lung
22	chr15:72019400-72019600	Enhancers	Esophagus	oesophagus

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