Variant report

Variant	rs7558416
Chromosome Location	chr2:100428637-100428638
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	chr2:100426650..100429823-chr2:100433540..100436662,3	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]
rs12478013	0.83[AFR][1000 genomes]
rs13416974	0.82[AFR][1000 genomes]
rs1346619	1.00[AMR][1000 genomes]
rs4286327	0.82[AFR][1000 genomes]
rs5011805	1.00[AMR][1000 genomes]
rs57859098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60630243	1.00[AMR][1000 genomes]
rs61339333	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61348969	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542899	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706686	0.83[AMR][1000 genomes]
rs6707469	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6743473	0.83[AFR][1000 genomes]
rs72956193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7608476	0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv2845	chr2:100421826-100466558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100418200-100429400	Weak transcription	Fetal Lung	lung
2	chr2:100420400-100439400	Weak transcription	Fetal Brain Female	brain
3	chr2:100420800-100431800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100423600-100454600	Weak transcription	Lung	lung
5	chr2:100423800-100434600	Weak transcription	Fetal Brain Male	brain
6	chr2:100424000-100443000	Weak transcription	Dnd41	blood
7	chr2:100424200-100436200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:100424600-100438200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:100425000-100428800	Enhancers	NH-A	brain
10	chr2:100426600-100430200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100426800-100436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100427200-100428800	Enhancers	Osteobl	bone
13	chr2:100428000-100439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:100428000-100443000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:100428400-100429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:100428400-100429000	Enhancers	Aorta	Aorta
17	chr2:100428400-100429000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:100428600-100428800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:100428600-100429600	Weak transcription	Fetal Heart	heart
20	chr2:100428600-100431200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:100428600-100432800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100428600-100443000	Weak transcription	Right Atrium	heart

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