Variant report

Variant	rs10216559
Chromosome Location	chr8:91173322-91173323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10088137	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs10088826	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10092098	0.86[CEU][hapmap]
rs10093716	1.00[EUR][1000 genomes]
rs10094625	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10095826	0.91[CEU][hapmap]
rs10100369	0.91[CEU][hapmap]
rs10100993	0.80[EUR][1000 genomes]
rs10104321	0.85[CEU][hapmap]
rs10107297	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1073074	0.81[EUR][1000 genomes]
rs11782032	0.90[CEU][hapmap]
rs11993791	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12171665	0.81[CEU][hapmap]
rs12549107	0.86[CEU][hapmap]
rs12679577	0.86[CEU][hapmap]
rs1800645	0.86[CEU][hapmap]
rs1805870	0.90[CEU][hapmap]
rs1805871	0.87[CEU][hapmap]
rs1805874	0.91[CEU][hapmap]
rs1805876	0.86[CEU][hapmap]
rs1805877	0.80[CEU][hapmap]
rs2023848	0.87[JPT][hapmap]
rs2049815	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049816	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2091887	0.86[CEU][hapmap]
rs2178830	0.80[EUR][1000 genomes]
rs2189261	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2205108	0.91[CEU][hapmap]
rs2840205	0.83[EUR][1000 genomes]
rs3758146	0.87[CEU][hapmap]
rs4961166	0.81[CEU][hapmap]
rs4961170	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4961171	0.83[EUR][1000 genomes]
rs6470668	0.85[CEU][hapmap]
rs6470671	0.86[CEU][hapmap]
rs6470713	0.85[CEU][hapmap]
rs6470747	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6470748	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470752	1.00[EUR][1000 genomes]
rs6470756	0.99[EUR][1000 genomes]
rs6988013	0.81[CEU][hapmap]
rs6994202	0.85[CEU][hapmap]
rs7010368	0.83[EUR][1000 genomes]
rs7011734	0.83[EUR][1000 genomes]
rs7459577	0.86[CEU][hapmap]
rs7461859	0.86[CEU][hapmap]
rs7463278	0.85[CEU][hapmap]
rs7815279	0.85[CEU][hapmap]
rs7816237	0.87[JPT][hapmap]
rs7821408	0.86[CEU][hapmap]
rs978953	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs988851	0.91[JPT][hapmap]

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
rs10216559	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91163200-91176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:91171000-91174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91172600-91173800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:91172800-91173600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr8:91172800-91173600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:91172800-91173600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:91172800-91173800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:91172800-91174000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:91172800-91174000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:91172800-91174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:91172800-91174200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:91172800-91174400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:91172800-91174400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:91172800-91174400	Enhancers	K562	blood
15	chr8:91172800-91174600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:91173000-91176400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:91173200-91174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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