Variant report

Variant	rs62489323
Chromosome Location	chr8:11577201-11577202
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11576614..11577288-chr8:11587891..11588770,3	MCF-7	breast:
2	chr8:11570486..11572575-chr8:11576211..11578134,2	K562	blood:
3	chr8:11569396..11573726-chr8:11575318..11577927,4	MCF-7	breast:
4	chr8:11576572..11577288-chr8:11587875..11588770,5	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56745056	1.00[EUR][1000 genomes]
rs62489315	1.00[EUR][1000 genomes]
rs62489316	1.00[EUR][1000 genomes]
rs62489318	1.00[EUR][1000 genomes]
rs62489320	1.00[EUR][1000 genomes]
rs62489321	1.00[EUR][1000 genomes]
rs62489324	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489340	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489341	1.00[EUR][1000 genomes]
rs62489342	1.00[EUR][1000 genomes]
rs62489346	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489347	1.00[EUR][1000 genomes]
rs62489350	1.00[EUR][1000 genomes]
rs62489351	1.00[EUR][1000 genomes]
rs7832153	1.00[EUR][1000 genomes]
rs7844208	1.00[EUR][1000 genomes]
rs7845076	1.00[EUR][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11568000-11577600	Weak transcription	Gastric	stomach
2	chr8:11572400-11577400	Weak transcription	Placenta	Placenta
3	chr8:11574000-11577800	Enhancers	Stomach Mucosa	stomach
4	chr8:11574000-11578000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:11574000-11578400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:11575200-11581800	Enhancers	Fetal Heart	heart
7	chr8:11575400-11577400	Weak transcription	Pancreas	Pancrea
8	chr8:11575800-11577400	Enhancers	Fetal Intestine Large	intestine
9	chr8:11575800-11577600	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:11576200-11584800	Enhancers	Liver	Liver
11	chr8:11576600-11577600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:11576600-11577600	Weak transcription	Right Atrium	heart
13	chr8:11576800-11577600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:11576800-11578800	Enhancers	HepG2	liver
15	chr8:11577000-11577600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:11577000-11577600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr8:11577200-11577400	Enhancers	Ovary	ovary
18	chr8:11577200-11577600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:11577200-11577800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr8:11577200-11579200	Enhancers	Left Ventricle	heart
21	chr8:11577200-11579400	Enhancers	Right Ventricle	heart

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