Variant report

Variant	rs17083380
Chromosome Location	chr5:93170476-93170477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93168374..93170848-chr5:93175545..93178313,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10041792	0.89[CEU][hapmap]
rs10044641	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10050364	0.89[CEU][hapmap]
rs10057664	0.89[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs10060331	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs10061069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10071040	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs1026279	0.89[CEU][hapmap];0.89[TSI][hapmap]
rs1031423	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.94[ASN][1000 genomes]
rs10476520	0.89[CEU][hapmap]
rs10866760	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs11135394	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135397	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs11135401	0.82[ASN][1000 genomes]
rs11948511	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs12054831	0.89[CEU][hapmap]
rs12653528	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs13165221	0.82[ASN][1000 genomes]
rs13167027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13184801	0.82[ASN][1000 genomes]
rs13186432	0.85[ASN][1000 genomes]
rs1349711	0.89[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs1453003	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs17083377	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs1901736	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1982439	0.89[CEU][hapmap]
rs2043979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2045019	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs2045020	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs2045021	0.89[CEU][hapmap]
rs2084916	0.89[CEU][hapmap]
rs2924374	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs35672980	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60375544	0.84[EUR][1000 genomes]
rs6556833	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6556834	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs6556838	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs6556839	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs6869110	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs6877616	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs6879620	0.89[CEU][hapmap]
rs6881815	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs6890998	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs6895356	0.89[CEU][hapmap]
rs6898507	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs7702348	0.89[CEU][hapmap]
rs7702649	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs7708175	0.81[ASN][1000 genomes]
rs7713956	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs7721668	0.94[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728825	0.81[ASN][1000 genomes]
rs7732578	0.81[ASN][1000 genomes]
rs7733142	0.85[ASN][1000 genomes]
rs7735009	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7736892	0.89[CEU][hapmap]
rs890738	0.88[ASN][1000 genomes]
rs896729	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs9314086	0.89[CEU][hapmap];0.90[TSI][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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv830405	chr5:93086825-93258518	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17083380	GAL	trans	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93111600-93179800	Weak transcription	Left Ventricle	heart
2	chr5:93131200-93179200	Weak transcription	Ovary	ovary
3	chr5:93137600-93180400	Weak transcription	Fetal Lung	lung
4	chr5:93143200-93180000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:93146800-93180200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:93147400-93179800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:93162000-93215000	Weak transcription	Aorta	Aorta
8	chr5:93162200-93179600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:93163800-93179800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:93164600-93180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:93165000-93179800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:93166400-93180400	Weak transcription	Primary B cells from cord blood	blood
13	chr5:93167400-93178200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:93167400-93180200	Weak transcription	Primary T cells from cord blood	blood
15	chr5:93168200-93179400	Weak transcription	HSMM	muscle

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