Variant report

Variant	rs7183814
Chromosome Location	chr15:43529630-43529631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43529509..43532294-chr15:43567272..43569682,2	K562	blood:
2	chr15:43528880..43530995-chr15:43543131..43545896,2	K562	blood:

Variant related genes	Relation type
ENSG00000159495	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11070391	0.89[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs11070396	1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11070397	0.87[EUR][1000 genomes]
rs11070398	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855754	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12592725	1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12899266	0.89[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs1462856	0.89[CEU][hapmap]
rs16957511	1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1834643	0.91[EUR][1000 genomes]
rs2042742	0.92[EUR][1000 genomes]
rs2241516	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412752	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs28585036	0.86[CEU][hapmap]
rs28756768	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899077	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2947019	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs34646108	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784267	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784268	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924704	0.89[CEU][hapmap]
rs494863	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];0.93[MKK][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495286	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs497138	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499280	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs530305	1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531850	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs538218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs540587	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174915	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs8027371	0.86[CHD][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7183814	TGM5	cis	lymphoblastoid	seeQTL
rs7183814	CCNDBP1	cis	Lymphoblastoid	GTEx
rs7183814	ARV1	trans	lymphoblastoid	seeQTL
rs7183814	CCNDBP1	cis	lymphoblastoid	seeQTL
rs7183814	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43523600-43530800	Weak transcription	K562	blood
2	chr15:43524800-43530200	Weak transcription	Adipose Nuclei	Adipose
3	chr15:43527000-43530400	Weak transcription	Esophagus	oesophagus
4	chr15:43528000-43531600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:43528800-43530200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:43529000-43530200	Weak transcription	Primary hematopoietic stem cells	blood

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