Variant report

Variant	rs2030453
Chromosome Location	chr8:119645878-119645879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119633762..119636095-chr8:119645506..119648099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177570	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10505339	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16891301	0.82[EUR][1000 genomes]
rs16891323	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16891338	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030454	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41423651	0.91[EUR][1000 genomes]
rs56707073	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56766049	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56976172	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56978296	0.82[EUR][1000 genomes]
rs57258372	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57833773	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58370206	0.82[EUR][1000 genomes]
rs58752744	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59143029	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60042461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6987819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988736	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7010079	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73319373	0.82[EUR][1000 genomes]
rs73319376	0.82[EUR][1000 genomes]
rs73319379	0.91[EUR][1000 genomes]
rs73319388	0.82[EUR][1000 genomes]
rs73319391	0.82[EUR][1000 genomes]
rs73319397	0.82[EUR][1000 genomes]
rs73319402	0.82[EUR][1000 genomes]
rs73321307	0.82[EUR][1000 genomes]
rs73321311	0.91[EUR][1000 genomes]
rs73321314	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321315	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321321	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321333	0.82[EUR][1000 genomes]
rs73321347	0.82[EUR][1000 genomes]
rs73321352	0.82[EUR][1000 genomes]
rs73321368	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321374	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321375	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321386	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321387	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73321401	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73323004	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73323005	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73323007	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73323008	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73323016	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7830872	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972574	chr8:119634666-119651085	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv465787	chr8:119641169-119726242	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470231	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv612049	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119635000-119650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:119641400-119646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:119645000-119646200	Weak transcription	HSMM	muscle
4	chr8:119645000-119648600	Enhancers	Osteobl	bone
5	chr8:119645200-119646200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:119645200-119646400	Weak transcription	NH-A	brain
7	chr8:119645200-119647000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:119645200-119648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:119645200-119648800	Enhancers	NHDF-Ad	bronchial
10	chr8:119645400-119646400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:119645600-119646000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:119645600-119646000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:119645800-119646200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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