Variant report

Variant	rs7402487
Chromosome Location	chr15:79150195-79150196
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:79147722..79157046-chr15:79163022..79167664,11	K562	blood:
2	chr15:79149764..79156555-chr15:79163462..79168215,14	K562	blood:
3	chr15:79149806..79152518-chr15:79156758..79158450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10519214	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1075965	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16970190	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16970207	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16970215	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16970216	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16970248	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16970350	0.91[MEX][hapmap]
rs3803545	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4073321	0.80[AMR][1000 genomes]
rs4778627	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4778645	0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4778659	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4778858	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4778952	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4779081	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4779082	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56963875	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57547095	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57923940	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58105551	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58158830	0.80[AMR][1000 genomes]
rs58257692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58807257	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58858460	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60009001	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60589519	0.83[AMR][1000 genomes]
rs61009187	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61477430	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6495342	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7171615	0.94[ASN][1000 genomes]
rs73470371	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73470375	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73470383	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7402370	0.80[AMR][1000 genomes]
rs7402463	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7403094	0.83[AMR][1000 genomes]
rs7403100	0.83[AMR][1000 genomes]
rs894785	0.92[MEX][hapmap]

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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7402487	CTSH	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79143800-79152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:79143800-79152200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:79143800-79152200	Weak transcription	Fetal Lung	lung
4	chr15:79144000-79152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:79147800-79151800	Weak transcription	HepG2	liver
6	chr15:79148000-79151800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:79148600-79151800	Weak transcription	Osteobl	bone
8	chr15:79148600-79152000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:79148800-79151200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:79148800-79151600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:79148800-79151800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:79149200-79151200	Weak transcription	NHDF-Ad	bronchial

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