Variant report

Variant	rs9493048
Chromosome Location	chr6:131995313-131995314
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	chr6:131992289..131995426-chr6:131995620..131998596,3	K562	blood:
2	chr6:131990371..131993321-chr6:131995027..131997550,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10457574	0.95[ASN][1000 genomes]
rs11154642	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12192518	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12193853	0.98[ASN][1000 genomes]
rs12193980	0.98[ASN][1000 genomes]
rs12199015	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs12199875	0.88[ASN][1000 genomes]
rs12204520	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12206403	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs12206779	0.83[CHB][hapmap]
rs12207523	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12207688	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12210900	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12530416	0.84[CHB][hapmap]
rs17060552	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2270089	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs2286453	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286454	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213693	0.84[CHB][hapmap]
rs3213694	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs365475	0.80[CHB][hapmap]
rs3778569	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778570	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3778571	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800193	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800194	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800195	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800198	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs3800199	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs3843996	0.84[CHB][hapmap]
rs3850247	0.90[ASN][1000 genomes]
rs3850249	0.84[CHB][hapmap]
rs3861468	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs3904056	0.84[CHB][hapmap]
rs4126646	0.90[ASN][1000 genomes]
rs55931014	0.90[ASN][1000 genomes]
rs56947999	0.94[ASN][1000 genomes]
rs60048051	0.98[ASN][1000 genomes]
rs6569753	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6901900	0.93[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909448	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs6922526	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6922673	0.90[ASN][1000 genomes]
rs6931997	0.84[CHB][hapmap]
rs6935272	0.89[ASN][1000 genomes]
rs72999288	0.98[ASN][1000 genomes]
rs73001214	0.90[ASN][1000 genomes]
rs7738667	0.84[CHB][hapmap]
rs7746945	0.84[CHB][hapmap]
rs7762879	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.99[ASN][1000 genomes]
rs7765347	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs9321307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321308	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483311	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483321	0.93[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9483334	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs9483335	0.86[CHD][hapmap]
rs9493038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9493042	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9493046	0.99[ASN][1000 genomes]
rs9493050	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493057	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493081	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs9493082	0.89[CHB][hapmap]
rs9493084	0.84[CHB][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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv886669	chr6:131991532-132059074	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:131976000-131996600	Weak transcription	Fetal Intestine Large	intestine
3	chr6:131976200-131996800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:131977000-131997000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131986800-132009600	Strong transcription	HepG2	liver
6	chr6:131992400-131995600	Strong transcription	K562	blood
7	chr6:131993600-132020600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:131995200-132005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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