Variant report

Variant	rs7004646
Chromosome Location	chr8:69229605-69229606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69214227..69216220-chr8:69229088..69230981,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10098538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10099008	0.97[ASN][1000 genomes]
rs10101369	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1092884	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs13251356	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13257807	0.96[EUR][1000 genomes]
rs13261104	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13262740	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13272720	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs13276394	1.00[CEU][hapmap]
rs13278793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1517119	0.81[ASN][1000 genomes]
rs1517120	0.81[ASN][1000 genomes]
rs1517126	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1589055	0.81[ASN][1000 genomes]
rs1607142	0.81[ASN][1000 genomes]
rs1607143	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1807806	0.98[ASN][1000 genomes]
rs1880535	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1914328	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1971404	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1971527	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2037680	0.98[ASN][1000 genomes]
rs2048891	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2048892	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2090421	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2138677	0.92[CEU][hapmap]
rs2176368	0.92[CEU][hapmap]
rs2243693	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2249556	0.89[JPT][hapmap]
rs2263127	0.81[ASN][1000 genomes]
rs2591013	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2591018	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2676658	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2692026	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2692027	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6472395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6991818	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7000384	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7001418	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7009736	0.89[JPT][hapmap]
rs7013597	0.80[EUR][1000 genomes]
rs7013706	0.89[JPT][hapmap]
rs7015549	0.80[EUR][1000 genomes]
rs7017437	0.88[CEU][hapmap]
rs7818147	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7822588	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7823116	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7823422	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7829425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7838935	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs814438	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs814443	0.86[CHB][hapmap];0.92[ASN][1000 genomes]
rs814446	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs814449	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs814450	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs814451	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs814452	0.98[ASN][1000 genomes]
rs814453	0.99[ASN][1000 genomes]
rs814462	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs814464	0.94[ASN][1000 genomes]
rs868546	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890977	chr8:69173049-69236718	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv890978	chr8:69176154-69236718	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
5	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7004646	C8orf34	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69229600-69229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:69229600-69229800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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