Variant report

Variant	rs7814147
Chromosome Location	chr8:125935488-125935489
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	chr8:125827709..125829327-chr8:125933517..125935746,2	K562	blood:
2	chr8:125738536..125741882-chr8:125934456..125936858,4	MCF-7	breast:
3	chr8:125930758..125933677-chr8:125933854..125935992,2	MCF-7	breast:
4	chr8:125932988..125935844-chr8:125938111..125940601,2	MCF-7	breast:
5	chr8:125864651..125867984-chr8:125934838..125937619,3	MCF-7	breast:
6	chr8:125868680..125870635-chr8:125934172..125936239,2	MCF-7	breast:
7	chr8:125737610..125739305-chr8:125935041..125936937,2	MCF-7	breast:
8	chr8:125872673..125874635-chr8:125933342..125936048,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000250428	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16900089	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7460219	1.00[AMR][1000 genomes]
rs7833930	1.00[ASW][hapmap];0.85[LWK][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes]
rs7839821	1.00[ASW][hapmap];0.88[YRI][hapmap];0.82[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	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	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:125932800-125936800	Weak transcription	Right Atrium	heart
2	chr8:125933800-125936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:125934000-125936800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125934000-125937000	Weak transcription	Placenta	Placenta
5	chr8:125934400-125936400	Weak transcription	Fetal Heart	heart
6	chr8:125934400-125936400	Weak transcription	Left Ventricle	heart
7	chr8:125934400-125936600	Weak transcription	HepG2	liver
8	chr8:125934400-125937600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125934600-125936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:125935200-125937400	Enhancers	HMEC	breast
11	chr8:125935200-125937400	Enhancers	NHEK	skin
12	chr8:125935400-125936600	Enhancers	K562	blood
13	chr8:125935400-125937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:125935400-125937400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:125935400-125937600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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