Variant report

Variant	rs12334966
Chromosome Location	chr8:124955609-124955610
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	chr8:124852984..124855101-chr8:124954477..124956245,2	K562	blood:
2	chr8:124794688..124796229-chr8:124953654..124956422,2	MCF-7	breast:
3	chr8:124955186..124956902-chr8:124972449..124974180,2	MCF-7	breast:
4	chr8:124953479..124956441-chr8:124995139..124997408,2	MCF-7	breast:
5	chr8:124953666..124955209-chr8:124955251..124956757,2	MCF-7	breast:
6	chr8:124954427..124956794-chr8:124966019..124968249,2	MCF-7	breast:
7	chr8:124953943..124955855-chr8:124960688..124963361,2	MCF-7	breast:
8	chr8:124928038..124929759-chr8:124955238..124957453,2	MCF-7	breast:
9	chr8:124954545..124956067-chr8:124976679..124979602,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10111388	1.00[AMR][1000 genomes]
rs16899174	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16899177	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28422078	1.00[AMR][1000 genomes]
rs28666566	1.00[AMR][1000 genomes]
rs28736395	1.00[AMR][1000 genomes]
rs73339561	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1020971	chr8:124939571-124973679	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124949400-124955800	Weak transcription	Left Ventricle	heart
2	chr8:124952200-124955800	Weak transcription	Right Ventricle	heart
3	chr8:124952600-124967800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:124954800-124955800	Weak transcription	Gastric	stomach
5	chr8:124955400-124956000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:124955400-124956000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:124955400-124956200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:124955400-124956200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:124955400-124956200	Enhancers	Liver	Liver
10	chr8:124955600-124955800	Flanking Active TSS	Stomach Mucosa	stomach
11	chr8:124955600-124956000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:124955600-124956000	Enhancers	Fetal Heart	heart
13	chr8:124955600-124956000	Bivalent Enhancer	Small Intestine	intestine
14	chr8:124955600-124956200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:124955600-124956200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:124955600-124956200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:124955600-124956200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links