Variant report

Variant	rs72798231
Chromosome Location	chr5:126088794-126088795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126086623..126088967-chr5:126112573..126114191,2	MCF-7	breast:
2	chr5:126081330..126085676-chr5:126087306..126090527,6	K562	blood:
3	chr5:126085922..126090457-chr5:126109155..126115314,12	K562	blood:
4	chr5:126085005..126089171-chr5:126111139..126114328,4	MCF-7	breast:
5	chr5:126084161..126089107-chr5:126110456..126114428,11	K562	blood:
6	chr5:126014645..126017621-chr5:126086231..126089627,3	K562	blood:
7	chr5:126084093..126090268-chr5:126090581..126095382,8	K562	blood:
8	chr5:126081330..126083867-chr5:126087379..126089390,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12518228	0.84[AMR][1000 genomes]
rs12518331	0.84[AMR][1000 genomes]
rs12521448	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17165359	0.86[AFR][1000 genomes]
rs3749830	0.86[AFR][1000 genomes]
rs57073955	0.84[EUR][1000 genomes]
rs60818126	0.86[AFR][1000 genomes]
rs72780203	0.86[AFR][1000 genomes]
rs72798238	0.80[AMR][1000 genomes]
rs72798246	0.86[AFR][1000 genomes]
rs72798247	0.86[AFR][1000 genomes]
rs72798249	0.86[AFR][1000 genomes]
rs72798255	0.86[AFR][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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv462442	chr5:125921768-126089190	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv599662	chr5:125921768-126089190	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126078600-126094200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126083600-126093000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126084800-126090200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126084800-126094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:126084800-126094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:126085200-126089200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:126085200-126091200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:126085200-126093800	Weak transcription	Dnd41	blood
9	chr5:126086600-126094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:126087400-126094000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:126088000-126092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:126088200-126089000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:126088600-126089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:126088600-126089600	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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