Variant report

Variant	rs11775290
Chromosome Location	chr8:9904597-9904598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9903435..9909004-chr8:9909616..9914452,5	K562	blood:
2	chr8:9902844..9907723-chr8:9908592..9913674,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260093	Chromatin interaction
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

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]
rs11995711	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1521194	0.98[EUR][1000 genomes];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	0.98[EUR][1000 genomes]
rs28710334	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3105738	0.93[ASN][1000 genomes]
rs4598253	0.84[ASN][1000 genomes]
rs472514	1.00[CEU][hapmap]
rs525726	0.89[ASN][1000 genomes]
rs534667	0.98[EUR][1000 genomes]
rs555200	0.89[ASN][1000 genomes]
rs643955	0.93[ASN][1000 genomes]
rs647796	0.89[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]
rs956824	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[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:11 , 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	chr8:9899800-9905600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:9899800-9906200	Weak transcription	Fetal Brain Female	brain
5	chr8:9899800-9910600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:9901200-9906600	Enhancers	Liver	Liver
7	chr8:9902600-9911000	Weak transcription	Gastric	stomach
8	chr8:9903400-9904800	Enhancers	Fetal Intestine Large	intestine
9	chr8:9903800-9905600	Enhancers	HepG2	liver
10	chr8:9903800-9906200	Weak transcription	Fetal Brain Male	brain
11	chr8:9904000-9904600	Enhancers	Fetal Intestine Small	intestine

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