Variant report

Variant	rs59042751
Chromosome Location	chr8:125796558-125796559
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125794218..125796847-chr8:126009129..126011511,2	MCF-7	breast:
2	chr8:125792514..125796843-chr8:125864654..125871785,11	MCF-7	breast:
3	chr8:125738242..125741180-chr8:125795221..125797370,2	MCF-7	breast:
4	chr8:125796403..125800528-chr8:125801363..125805897,4	K562	blood:
5	chr8:125795816..125798581-chr8:125915709..125918279,2	MCF-7	breast:
6	chr8:125796182..125798570-chr8:125820001..125822258,2	MCF-7	breast:
7	chr8:125792724..125795528-chr8:125796094..125800609,5	MCF-7	breast:
8	chr8:125793781..125797282-chr8:125825921..125829127,4	K562	blood:
9	chr8:125792118..125796682-chr8:125867433..125871001,8	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10102575	0.82[EUR][1000 genomes]
rs4871542	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4871549	0.85[EUR][1000 genomes]
rs55764023	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55802810	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55838030	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55861013	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55875518	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55880902	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56172038	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56260476	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56291233	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56325389	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56391929	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59002304	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60947347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73704411	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73704412	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73704435	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73704439	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125788800-125796800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:125788800-125797000	Weak transcription	Left Ventricle	heart
3	chr8:125792000-125797800	Enhancers	HepG2	liver
4	chr8:125793400-125797000	Weak transcription	Esophagus	oesophagus
5	chr8:125793600-125797800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:125794000-125798800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:125794400-125796800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:125794800-125800200	Weak transcription	HMEC	breast
9	chr8:125795200-125797000	Weak transcription	Spleen	Spleen
10	chr8:125795200-125801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125795400-125796600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:125795400-125796800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:125795800-125797000	Weak transcription	K562	blood
14	chr8:125795800-125802000	Weak transcription	Placenta	Placenta
15	chr8:125796000-125801600	Weak transcription	Primary B cells from cord blood	blood
16	chr8:125796400-125801800	Weak transcription	Primary B cells from peripheral blood	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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