Variant report

Variant	rs2287772
Chromosome Location	chr5:147444785-147444786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10038561	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058108	0.81[EUR][1000 genomes]
rs10059850	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10060214	0.87[EUR][1000 genomes]
rs10062911	0.82[EUR][1000 genomes]
rs10065129	0.84[EUR][1000 genomes]
rs10069070	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs10073775	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1007977	0.87[EUR][1000 genomes]
rs1007978	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1017222	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12108690	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12514503	0.82[CEU][hapmap]
rs12519144	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs12519499	0.82[EUR][1000 genomes]
rs12521759	0.83[EUR][1000 genomes]
rs12521761	0.87[EUR][1000 genomes]
rs1363729	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1422992	0.89[CEU][hapmap]
rs1422995	0.85[EUR][1000 genomes]
rs1422996	0.83[EUR][1000 genomes]
rs1423000	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1423001	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1423002	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1423003	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1423004	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1423005	0.87[EUR][1000 genomes]
rs1423006	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1423007	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1609851	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1833768	0.87[EUR][1000 genomes]
rs1862439	0.82[CEU][hapmap]
rs1862445	0.82[CEU][hapmap]
rs1862446	0.82[CEU][hapmap]
rs28576989	0.81[EUR][1000 genomes]
rs3752676	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3756688	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3777140	0.82[CEU][hapmap]
rs3777143	0.82[CEU][hapmap]
rs3815735	0.82[CEU][hapmap]
rs3815737	0.81[CEU][hapmap]
rs3822744	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs4333302	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4357026	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs4472254	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4510567	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4519912	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4529181	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4610447	0.85[EUR][1000 genomes]
rs4705223	0.82[CEU][hapmap]
rs62388364	0.82[EUR][1000 genomes]
rs6580517	0.83[EUR][1000 genomes]
rs6580518	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580519	0.96[CEU][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580520	0.96[CEU][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6864564	0.96[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6864920	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6876628	0.85[EUR][1000 genomes]
rs6889688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894384	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7445392	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs7707841	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9325061	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs9325064	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs9325066	0.87[EUR][1000 genomes]
rs9325068	0.85[EUR][1000 genomes]
rs9325069	0.85[EUR][1000 genomes]
rs986493	0.87[EUR][1000 genomes]
rs986495	0.87[EUR][1000 genomes]
rs988885	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1834529	chr5:147442199-147456843	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2287772	SPINK5	cis	Adipose Subcutaneous	GTEx
rs2287772	SPINK5	cis	Thyroid	GTEx
rs2287772	SPINK5	cis	Muscle Skeletal	GTEx
rs2287772	SPINK5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147437200-147457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147437800-147450200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:147440400-147449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:147440400-147452800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:147443600-147450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:147443800-147455400	Weak transcription	Esophagus	oesophagus
8	chr5:147444200-147450400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:147444400-147446400	Weak transcription	NHEK	skin
10	chr5:147444600-147445800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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