Variant report

Variant	rs12544278
Chromosome Location	chr8:124931002-124931003
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124929623..124931147-chr8:124932693..124935660,2	K562	blood:
2	chr8:124779448..124782514-chr8:124930705..124935453,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10089499	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10089757	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10103366	0.81[JPT][hapmap]
rs10110548	0.81[JPT][hapmap]
rs10956153	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10956154	0.90[ASN][1000 genomes]
rs10956155	0.90[ASN][1000 genomes]
rs10956156	0.90[ASN][1000 genomes]
rs11779980	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11782845	0.81[JPT][hapmap]
rs12541526	0.83[ASN][1000 genomes]
rs12548182	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12548510	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12550262	0.81[JPT][hapmap]
rs1816368	0.81[JPT][hapmap]
rs28425543	0.90[ASN][1000 genomes]
rs61030560	0.83[ASN][1000 genomes]
rs6998986	0.81[JPT][hapmap]
rs7823205	0.81[JPT][hapmap]
rs7844410	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9656949	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124927000-124932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:124927600-124932800	Weak transcription	Stomach Mucosa	stomach
3	chr8:124927600-124934000	Weak transcription	HSMMtube	muscle
4	chr8:124927600-124934000	Weak transcription	K562	blood
5	chr8:124928200-124931400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:124928600-124932400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:124928800-124934000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:124929200-124932200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:124929200-124933600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:124930200-124932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:124931000-124934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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