Variant report

Variant	rs2468516
Chromosome Location	chr5:36458922-36458923
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	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2455270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455272	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455275	0.83[EUR][1000 genomes]
rs2455276	0.83[EUR][1000 genomes]
rs2455280	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2468507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2468508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468513	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468515	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2468517	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468518	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468537	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2937558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956572	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730760	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597817	chr5:36433782-36460075	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv597818	chr5:36440940-36460462	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv597819	chr5:36445458-36472990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023545	chr5:36448895-36461331	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1016667	chr5:36448895-36464362	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763449	chr5:36448895-36464374	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv597820	chr5:36452065-36463088	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv517187	chr5:36452471-36460462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv462121	chr5:36456056-36460425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv597821	chr5:36456056-36460425	Enhancers Weak transcription Flanking Active TSS	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	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
2	chr5:36453400-36459000	Weak transcription	Placenta	Placenta
3	chr5:36456800-36459400	Enhancers	HSMM	muscle
4	chr5:36456800-36460600	Enhancers	HMEC	breast
5	chr5:36457400-36459000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:36457400-36459400	Enhancers	Fetal Intestine Large	intestine
7	chr5:36457400-36459800	Enhancers	Hela-S3	cervix
8	chr5:36457400-36460400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:36457400-36460400	Enhancers	NHEK	skin
10	chr5:36457400-36461000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:36457600-36460400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:36457800-36462200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:36457800-36468000	Weak transcription	Fetal Heart	heart
14	chr5:36458000-36459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:36458200-36459200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:36458200-36462600	Weak transcription	NH-A	brain
17	chr5:36458200-36462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:36458400-36460000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:36458400-36462200	Weak transcription	Osteobl	bone
20	chr5:36458400-36462400	Weak transcription	HSMMtube	muscle
21	chr5:36458600-36459000	Weak transcription	Muscle Satellite Cultured Cells	--

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