Variant report

Variant	rs10100369
Chromosome Location	chr8:91130683-91130684
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90791149..90792881-chr8:91130629..91132427,2	K562	blood:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10088137	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10088826	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10094625	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10095826	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10100993	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107297	0.82[EUR][1000 genomes]
rs10109405	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073074	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782032	0.81[CEU][hapmap]
rs12171665	0.81[CEU][hapmap]
rs13277204	0.83[EUR][1000 genomes]
rs1476590	0.80[CEU][hapmap]
rs1554927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16786	0.80[CEU][hapmap]
rs1805809	0.80[CEU][hapmap]
rs1805833	0.80[CEU][hapmap]
rs1805841	0.80[CEU][hapmap]
rs1805864	0.80[CEU][hapmap]
rs1805870	0.85[CEU][hapmap]
rs1805871	0.95[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs1805874	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2049815	0.88[EUR][1000 genomes]
rs2049816	0.88[EUR][1000 genomes]
rs2063976	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2103432	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2103441	0.81[ASN][1000 genomes]
rs2142093	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2142094	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2178830	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2189261	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2205108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293775	0.84[CEU][hapmap]
rs28380191	0.85[EUR][1000 genomes]
rs2840205	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087750	0.91[EUR][1000 genomes]
rs34915823	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35044745	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3758146	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961165	0.80[CEU][hapmap]
rs4961166	0.81[CEU][hapmap]
rs4961170	0.82[EUR][1000 genomes]
rs4961171	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470708	0.83[EUR][1000 genomes]
rs6470709	0.83[EUR][1000 genomes]
rs6470748	0.82[EUR][1000 genomes]
rs6994668	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010210	0.80[CEU][hapmap]
rs7010368	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011734	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459441	0.83[EUR][1000 genomes]
rs7459845	0.81[EUR][1000 genomes]
rs7459846	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7465539	0.83[EUR][1000 genomes]
rs7831184	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs978953	0.82[EUR][1000 genomes]
rs988934	0.83[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10100369	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91128600-91130800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:91128600-91130800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:91128600-91130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:91130400-91131200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:91130400-91131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:91130400-91131400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:91130400-91131600	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links