Variant report

Variant	rs7723019
Chromosome Location	chr5:50149487-50149488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10053011	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2354535	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34653722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57674462	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59087322	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59260728	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59696604	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61302972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450423	1.00[EUR][1000 genomes]
rs6861235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861566	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894122	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73104834	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73104836	1.00[EUR][1000 genomes]
rs7700920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728126	1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
2	chr5:50141400-50152400	Weak transcription	Dnd41	blood
3	chr5:50141600-50152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:50147600-50153600	Enhancers	Primary B cells from cord blood	blood
5	chr5:50147800-50153600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:50148200-50153800	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:50148400-50149800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:50148600-50149600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:50148800-50149800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:50149200-50149800	Enhancers	GM12878-XiMat	blood
11	chr5:50149400-50149600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr5:50149400-50151400	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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