Variant report

Variant	rs4778645
Chromosome Location	chr15:79155140-79155141
allele	C/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	chr15:79152585..79155864-chr15:79171888..79174971,4	K562	blood:
3	chr15:79149764..79156555-chr15:79163462..79168215,14	K562	blood:

Variant related genes	Relation type
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10519214	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1075965	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970190	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16970207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16970215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970216	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970350	0.91[MEX][hapmap]
rs3803545	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4778627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4778659	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4778858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4778952	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4779081	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4779082	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56963875	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs58105551	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58257692	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58807257	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58858460	0.83[ASN][1000 genomes]
rs60009001	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61009187	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6495342	0.83[ASN][1000 genomes]
rs7171615	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73470371	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73470375	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73470383	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7402463	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7402487	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]
rs894785	0.92[MEX][hapmap]

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	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	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
3	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
rs4778645	CTSH	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79153000-79163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:79153200-79156200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:79153200-79163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:79153200-79164600	Weak transcription	A549	lung
5	chr15:79153600-79156800	Weak transcription	HepG2	liver

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