Variant report

Variant	rs4592013
Chromosome Location	chr8:125344022-125344023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125337424..125341244-chr8:125341867..125344494,3	K562	blood:
2	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
3	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:
4	chr8:125338867..125341244-chr8:125341867..125344052,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089507	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[GIH][hapmap];0.81[LWK][hapmap];0.90[TSI][hapmap]
rs10092974	0.96[CEU][hapmap];0.91[CHB][hapmap]
rs10102946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107757	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10111526	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs10217100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11786409	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11994409	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998018	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]
rs12682324	0.83[AFR][1000 genomes]
rs13250065	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076119	0.96[CEU][hapmap]
rs4131904	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4351403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4464954	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs4870894	0.88[CEU][hapmap]
rs62530025	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6980763	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986235	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004196	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004771	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7829851	0.84[CHD][hapmap]
rs9656954	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	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
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4592013	RP11-383J24.6	cis	Adipose Subcutaneous	GTEx
rs4592013	TMPRSS3	trans	lymphoblastoid	seeQTL
rs4592013	LOC286052	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
3	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
6	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125334000-125345800	Weak transcription	HMEC	breast
9	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
10	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125338000-125345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:125338000-125347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125338400-125346000	Weak transcription	A549	lung
14	chr8:125339200-125344400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:125339200-125347000	Weak transcription	Primary T cells from cord blood	blood
16	chr8:125339400-125344600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:125340000-125346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:125343200-125344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:125343400-125345600	Weak transcription	Fetal Heart	heart

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