Variant report

Variant	rs1384830
Chromosome Location	chr8:51544593-51544594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10087631	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10088424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10088550	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10090779	0.87[ASN][1000 genomes]
rs10106921	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10107280	0.92[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs10108554	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs10110737	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1157348	0.85[JPT][hapmap]
rs11994238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334955	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs12542270	0.86[AFR][1000 genomes]
rs12547661	0.88[ASW][hapmap];0.81[MKK][hapmap]
rs12675489	0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs12677318	0.84[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs12679674	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12682223	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1384828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481474	0.91[CHD][hapmap]
rs1483637	0.94[ASW][hapmap];0.90[LWK][hapmap];0.83[MKK][hapmap]
rs1483640	0.87[ASW][hapmap];0.82[LWK][hapmap]
rs1483646	0.94[ASW][hapmap];0.82[LWK][hapmap];0.82[MKK][hapmap]
rs16915036	0.85[JPT][hapmap]
rs16915079	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16915097	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16915100	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2046355	0.92[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap]
rs28412668	0.93[ASN][1000 genomes]
rs3849806	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4617166	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873466	0.94[ASW][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap]
rs4873467	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6473235	0.83[ASW][hapmap]
rs6473239	0.85[JPT][hapmap]
rs6473247	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs6473249	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs6473253	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6998737	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7002065	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7017918	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9298339	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51542800-51544800	Enhancers	Primary B cells from cord blood	blood
2	chr8:51543200-51544600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:51544200-51545800	Enhancers	HUVEC	blood vessel
4	chr8:51544200-51552600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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