Variant report

Variant	rs73700631
Chromosome Location	chr8:110547080-110547081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:110546842-110547694	PBDE	blood:	n/a	n/a
2	STAT3	chr8:110546991-110547368	MCF10A-Er-Src	breast:	n/a	chr8:110547166-110547177
3	POLR2A	chr8:110546783-110547201	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110546124..110548249-chr8:110656124..110658861,2	MCF-7	breast:
2	chr8:110544819..110549449-chr8:110549976..110554355,13	K562	blood:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000248050	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10441509	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879659	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879674	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879680	1.00[ASN][1000 genomes]
rs16879693	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879696	1.00[EUR][1000 genomes]
rs16879730	1.00[ASN][1000 genomes]
rs16918465	1.00[EUR][1000 genomes]
rs1824191	1.00[EUR][1000 genomes]
rs2124979	1.00[EUR][1000 genomes]
rs56106062	1.00[EUR][1000 genomes]
rs56810186	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57080527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57175707	1.00[EUR][1000 genomes]
rs57556233	1.00[EUR][1000 genomes]
rs57608746	1.00[EUR][1000 genomes]
rs58602890	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60917031	1.00[EUR][1000 genomes]
rs61247948	1.00[EUR][1000 genomes]
rs73700614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700615	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704014	1.00[EUR][1000 genomes]
rs73704021	1.00[EUR][1000 genomes]
rs73704027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704041	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828841	1.00[ASN][1000 genomes]
rs7843815	1.00[ASN][1000 genomes]
rs9297428	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110543200-110550600	Weak transcription	GM12878-XiMat	blood
2	chr8:110543600-110551200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:110544200-110547400	Enhancers	Brain Germinal Matrix	brain
4	chr8:110544400-110550800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:110545400-110547200	Weak transcription	NHEK	skin
6	chr8:110545600-110547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:110545600-110551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:110546600-110549600	Enhancers	Fetal Brain Male	brain
9	chr8:110546800-110547400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:110546800-110548400	Enhancers	Fetal Brain Female	brain
11	chr8:110546800-110548600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:110546800-110549800	Enhancers	Fetal Lung	lung
13	chr8:110547000-110547200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:110547000-110547200	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:110547000-110547200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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