Variant report

Variant	rs1521194
Chromosome Location	chr8:9899255-9899256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9898874..9899812-chr8:10282419..10282930,2	K562	blood:
2	chr8:9898822..9899498-chr8:10190113..10190904,3	K562	blood:
3	chr8:9898892..9899783-chr8:10131113..10132044,4	K562	blood:
4	chr8:9898731..9899394-chr8:10399301..10400191,2	MCF-7	breast:
5	chr8:9898835..9899700-chr8:10131105..10131973,4	MCF-7	breast:
6	chr8:9898818..9899707-chr8:10131509..10132062,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10098342	0.89[CEU][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap]
rs10216752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11775290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11995711	0.96[ASN][1000 genomes]
rs17151071	0.89[CEU][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap]
rs17738724	1.00[CEU][hapmap]
rs17739113	0.89[CEU][hapmap];0.89[JPT][hapmap]
rs17739179	0.89[JPT][hapmap]
rs2628140	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2661755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2683999	0.82[AFR][1000 genomes]
rs28710334	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105738	0.90[ASN][1000 genomes]
rs4598253	0.81[ASN][1000 genomes]
rs472514	1.00[CEU][hapmap]
rs525726	0.93[ASN][1000 genomes]
rs534667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs555200	0.93[ASN][1000 genomes]
rs643955	0.90[ASN][1000 genomes]
rs647796	0.93[ASN][1000 genomes]
rs728878	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs7812741	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs814405	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs9329213	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs956824	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1034165	chr8:9821150-9906812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539465	chr8:9821150-9906812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9889200-9905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:9897600-9905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:9898400-9899800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:9898400-9899800	Enhancers	Brain Germinal Matrix	brain
5	chr8:9898600-9899800	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:9898600-9899800	Enhancers	Fetal Brain Female	brain
7	chr8:9899200-9899400	Enhancers	Brain Angular Gyrus	brain
8	chr8:9899200-9899600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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