Variant report

Variant	rs10203520
Chromosome Location	chr2:10644011-10644012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
2	chr2:10642460..10644626-chr2:10645333..10647878,3	K562	blood:
3	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
4	chr2:10642578..10644778-chr2:10652202..10654281,2	K562	blood:
5	chr2:10587936..10589560-chr2:10643216..10645286,2	K562	blood:

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10170147	1.00[EUR][1000 genomes]
rs10189026	1.00[EUR][1000 genomes]
rs10203529	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11897672	1.00[EUR][1000 genomes]
rs11903106	1.00[EUR][1000 genomes]
rs11904157	1.00[EUR][1000 genomes]
rs11904263	1.00[EUR][1000 genomes]
rs13385706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401475	1.00[EUR][1000 genomes]
rs13428075	0.89[AFR][1000 genomes]
rs16856239	1.00[EUR][1000 genomes]
rs16856397	1.00[EUR][1000 genomes]
rs28362406	1.00[EUR][1000 genomes]
rs28362407	1.00[EUR][1000 genomes]
rs28362418	1.00[EUR][1000 genomes]
rs58248202	1.00[EUR][1000 genomes]
rs59876692	1.00[EUR][1000 genomes]
rs61684351	1.00[EUR][1000 genomes]
rs6738288	1.00[EUR][1000 genomes]
rs73163017	1.00[EUR][1000 genomes]
rs73917006	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2755724	chr2:10624654-10675549	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv873652	chr2:10627860-10688969	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv873653	chr2:10627860-10688969	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv9358	chr2:10630321-10686821	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv828319	chr2:10630428-10679028	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 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	chr2:10634800-10654400	Weak transcription	Right Atrium	heart
2	chr2:10640200-10645200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:10643200-10645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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