Variant report

Variant	rs10248546
Chromosome Location	chr7:48582817-48582818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10227179	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10227187	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10230786	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10237159	0.84[CEU][hapmap]
rs10237473	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10238373	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10249009	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10251517	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10255612	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10256255	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10267753	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10273407	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276131	1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276989	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10277088	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280481	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10282413	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762388	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765338	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11765607	0.83[AMR][1000 genomes]
rs11770110	0.88[JPT][hapmap]
rs11771470	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11772033	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11981491	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12535273	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535354	0.94[JPT][hapmap]
rs12537664	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540368	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1534393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17662893	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730186	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1881077	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1918579	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2043391	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2043392	0.83[CEU][hapmap]
rs2043393	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2178088	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4022347	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4144065	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4917020	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917141	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4917142	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4917143	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4917144	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4917145	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4917147	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4917149	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4917152	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4917153	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4917154	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs56395407	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59915104	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6959861	0.94[JPT][hapmap]
rs73107532	0.90[ASN][1000 genomes]
rs73107543	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73111420	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs735069	0.86[CEU][hapmap]
rs735070	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs7782619	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7799302	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808037	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv888008	chr7:48568425-48652224	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv2764056	chr7:48580914-48592025	Enhancers Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv11768	chr7:48581423-48592171	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
8	nsv514416	chr7:48581830-48592050	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
9	esv1818564	chr7:48581852-48592025	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv2421774	chr7:48581852-48592025	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
11	nsv442042	chr7:48581852-48592025	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48582800-48583000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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