Variant report

Variant	rs2173005
Chromosome Location	chr8:50632803-50632804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10098245	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10098599	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10099915	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10104767	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11787471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12056923	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1318749	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13250092	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277253	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13278513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13282371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13282682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1496315	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1603399	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16910533	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1908709	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2132527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28476719	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4455843	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4587348	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56269115	0.88[AMR][1000 genomes]
rs57417954	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59759350	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60998432	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6472567	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6996205	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6996381	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7002403	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73572931	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73572934	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73575139	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7387296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825182	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7825327	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7829956	0.90[EUR][1000 genomes]
rs7845598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv917031	chr8:50207246-50709286	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759612	chr8:50415233-50657352	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758157	chr8:50415863-50657352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv890863	chr8:50430756-50639293	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50626600-50635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:50629000-50633800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:50630400-50633000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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