Variant report

Variant	rs2052993
Chromosome Location	chr8:62008813-62008814
allele	C/T
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	chr8:61935326..61936927-chr8:62007564..62009390,8	MCF-7	breast:
2	chr8:61759755..61760612-chr8:62008400..62008957,3	MCF-7	breast:
3	chr8:61963224..61963734-chr8:62008381..62008913,2	MCF-7	breast:
4	chr8:61572758..61573696-chr8:62008289..62009317,3	K562	blood:
5	chr8:61935759..61936730-chr8:62008328..62008885,3	K562	blood:
6	chr8:61873885..61874676-chr8:62008576..62009223,2	K562	blood:
7	chr8:61966707..61967475-chr8:62008013..62008935,3	MCF-7	breast:
8	chr8:61995378..61997257-chr8:62008588..62010833,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10108726	1.00[ASN][1000 genomes]
rs10112795	0.82[ASN][1000 genomes]
rs13278769	1.00[JPT][hapmap]
rs1347004	1.00[ASN][1000 genomes]
rs1367974	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2007873	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919305	0.82[JPT][hapmap]
rs2931292	0.82[JPT][hapmap]
rs2931322	1.00[JPT][hapmap]
rs2931323	1.00[JPT][hapmap]
rs2978498	1.00[JPT][hapmap]
rs6983455	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7017483	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7017626	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7824081	0.82[ASN][1000 genomes]
rs9650205	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465697	chr8:61963699-62025948	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv611425	chr8:61963699-62025948	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 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	chr8:62007400-62011200	Weak transcription	Esophagus	oesophagus
2	chr8:62008000-62009000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:62008400-62009000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:62008400-62009000	Active TSS	Brain Anterior Caudate	brain
5	chr8:62008600-62009000	Active TSS	GM12878-XiMat	blood
6	chr8:62008600-62010200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:62008600-62011200	Weak transcription	NHEK	skin
8	chr8:62008800-62009000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:62008800-62011000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:62008800-62011000	Weak transcription	HMEC	breast
11	chr8:62008800-62011200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:62008800-62011200	Weak transcription	Liver	Liver

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

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