Variant report

Variant	rs6470756
Chromosome Location	chr8:91172398-91172399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10088826	0.90[EUR][1000 genomes]
rs10093716	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10094625	0.82[EUR][1000 genomes]
rs10107297	0.89[EUR][1000 genomes]
rs10216559	0.99[EUR][1000 genomes]
rs11993791	0.99[EUR][1000 genomes]
rs2049815	0.85[EUR][1000 genomes]
rs2049816	0.85[EUR][1000 genomes]
rs2189261	0.82[EUR][1000 genomes]
rs2840205	0.81[EUR][1000 genomes]
rs4961170	0.92[EUR][1000 genomes]
rs4961171	0.81[EUR][1000 genomes]
rs6470748	0.92[EUR][1000 genomes]
rs6470752	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010368	0.81[EUR][1000 genomes]
rs7011734	0.81[EUR][1000 genomes]
rs978953	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv824687	chr8:91144854-91177488	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv35109	chr8:91150726-91226940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv818643	chr8:91153308-91212148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6470756	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91163200-91176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:91168800-91172800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:91169800-91172800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:91171000-91174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:91171600-91172800	Weak transcription	K562	blood
6	chr8:91171800-91172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:91172200-91172600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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