Variant report

Variant	rs17436127
Chromosome Location	chr2:100401561-100401562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100393300..100395336-chr2:100401507..100403583,2	MCF-7	breast:
2	chr2:100396107..100398536-chr2:100399998..100402177,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10460488	0.97[EUR][1000 genomes]
rs11887420	0.82[EUR][1000 genomes]
rs13405175	1.00[EUR][1000 genomes]
rs13419977	0.97[EUR][1000 genomes]
rs13433082	0.97[EUR][1000 genomes]
rs17023084	0.97[EUR][1000 genomes]
rs17023253	0.88[EUR][1000 genomes]
rs17023254	0.88[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17351577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17352234	0.88[EUR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436705	0.88[EUR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17765792	1.00[MEX][hapmap]
rs34454377	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147569	0.80[EUR][1000 genomes]
rs62147614	0.88[EUR][1000 genomes]
rs62147617	0.88[EUR][1000 genomes]
rs62147618	0.83[EUR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147648	0.88[EUR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes]
rs62150103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150106	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150110	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150111	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6711546	1.00[EUR][1000 genomes]
rs6755935	0.97[EUR][1000 genomes]
rs6761899	0.97[EUR][1000 genomes]
rs940459	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100393800-100404000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100394000-100403000	Weak transcription	Fetal Brain Female	brain
4	chr2:100394400-100405800	Weak transcription	Lung	lung
5	chr2:100395000-100403600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:100395600-100402400	Weak transcription	Fetal Brain Male	brain
7	chr2:100396200-100407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100396200-100409200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:100397400-100409800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:100397800-100411400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100399000-100406000	Weak transcription	Spleen	Spleen
12	chr2:100399400-100412800	Weak transcription	Dnd41	blood
13	chr2:100399600-100406600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:100399800-100402000	Enhancers	Adipose Nuclei	Adipose
15	chr2:100400200-100402000	Enhancers	Liver	Liver
16	chr2:100400600-100401600	Enhancers	Colon Smooth Muscle	Colon
17	chr2:100401000-100402000	Enhancers	Fetal Lung	lung
18	chr2:100401000-100403000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:100401200-100403800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:100401400-100401600	Enhancers	Placenta	Placenta
21	chr2:100401400-100402200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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