Variant report

Variant	rs11998018
Chromosome Location	chr8:125305884-125305885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125303996..125306614-chr8:125309015..125311181,2	K562	blood:
2	chr8:125304018..125305928-chr8:125383315..125385375,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10088435	0.84[EUR][1000 genomes]
rs10089507	0.81[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs10092974	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10102946	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap]
rs10111526	0.81[ASW][hapmap];0.92[CEU][hapmap];0.82[MEX][hapmap];0.80[YRI][hapmap]
rs10217100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs11786409	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs11994409	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11997400	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076119	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4131904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4351403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs4464954	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4592013	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs4625016	0.85[EUR][1000 genomes]
rs4870894	0.88[CEU][hapmap]
rs5010451	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980763	1.00[CEU][hapmap]
rs6986235	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7004771	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs7829851	0.83[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11998018	TMPRSS3	trans	lymphoblastoid	seeQTL
rs11998018	RP11-383J24.6	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125295600-125306800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
3	chr8:125303600-125306200	Enhancers	A549	lung
4	chr8:125304400-125313600	Weak transcription	Left Ventricle	heart
5	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
6	chr8:125305600-125306200	Enhancers	Pancreatic Islets	Pancreatic Islet

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