Variant report

Variant	rs71615990
Chromosome Location	chr5:50145187-50145188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50127314..50129210-chr5:50143987..50146810,2	MCF-7	breast:
2	chr5:50134167..50137046-chr5:50144951..50147438,2	MCF-7	breast:
3	chr5:50139685..50142220-chr5:50145007..50147004,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10052372	0.92[EUR][1000 genomes]
rs11950506	0.96[EUR][1000 genomes]
rs11952107	0.83[EUR][1000 genomes]
rs11955651	0.89[EUR][1000 genomes]
rs11955934	1.00[EUR][1000 genomes]
rs11959326	0.82[EUR][1000 genomes]
rs13155662	0.96[EUR][1000 genomes]
rs13156735	0.89[EUR][1000 genomes]
rs13157079	0.89[EUR][1000 genomes]
rs13159045	0.98[EUR][1000 genomes]
rs13159239	0.83[EUR][1000 genomes]
rs13161225	0.98[EUR][1000 genomes]
rs13162738	0.89[EUR][1000 genomes]
rs13163470	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13163802	1.00[EUR][1000 genomes]
rs13166819	0.98[EUR][1000 genomes]
rs13169153	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13174498	0.89[EUR][1000 genomes]
rs13176737	0.96[EUR][1000 genomes]
rs13181031	0.87[EUR][1000 genomes]
rs13181117	0.89[EUR][1000 genomes]
rs13183910	0.89[EUR][1000 genomes]
rs13186653	0.96[EUR][1000 genomes]
rs13189183	0.98[EUR][1000 genomes]
rs13190144	0.82[EUR][1000 genomes]
rs16886309	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34183555	0.82[EUR][1000 genomes]
rs34264957	0.82[EUR][1000 genomes]
rs34414061	0.87[EUR][1000 genomes]
rs34677483	0.89[EUR][1000 genomes]
rs34758774	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34827507	0.96[EUR][1000 genomes]
rs34855203	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35128589	0.83[EUR][1000 genomes]
rs35347195	0.96[EUR][1000 genomes]
rs35473824	0.89[EUR][1000 genomes]
rs41270305	0.98[EUR][1000 genomes]
rs6859621	0.83[EUR][1000 genomes]
rs6880398	0.89[EUR][1000 genomes]
rs6883701	0.96[EUR][1000 genomes]
rs6888271	0.96[EUR][1000 genomes]
rs6888315	0.96[EUR][1000 genomes]
rs71615978	0.83[EUR][1000 genomes]
rs71615981	0.89[EUR][1000 genomes]
rs71615983	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71615984	0.96[EUR][1000 genomes]
rs71615986	0.96[EUR][1000 genomes]
rs71615988	0.98[EUR][1000 genomes]
rs71615991	0.98[EUR][1000 genomes]
rs7717073	0.83[EUR][1000 genomes]
rs7726225	0.83[EUR][1000 genomes]
rs7733931	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:50125400-50149200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:50129200-50148400	Weak transcription	GM12878-XiMat	blood
4	chr5:50132600-50148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:50140200-50148600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:50140600-50148200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:50141400-50152400	Weak transcription	Dnd41	blood
9	chr5:50141600-50147600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:50141600-50152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:50141800-50147800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:50143400-50147800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:50143600-50148600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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