Variant report

Variant	rs2720024
Chromosome Location	chr12:122140846-122140847
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122138741..122141913-chr12:122144591..122146926,3	MCF-7	breast:
2	chr12:122139575..122141363-chr12:122218691..122220563,2	MCF-7	breast:
3	chr12:122139766..122142322-chr12:122210806..122212590,2	MCF-7	breast:
4	chr12:122140564..122141337-chr12:122186461..122187284,3	MCF-7	breast:
5	chr12:122139837..122144017-chr12:122148702..122152196,8	MCF-7	breast:
6	chr12:122138274..122140885-chr12:122248656..122250859,2	MCF-7	breast:
7	chr12:122138908..122142870-chr12:122231308..122235271,5	MCF-7	breast:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11043180	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2669163	0.83[AMR][1000 genomes]
rs2669168	0.83[AMR][1000 genomes]
rs2720025	0.82[AMR][1000 genomes]
rs2720035	0.81[AMR][1000 genomes]
rs2942368	0.83[AMR][1000 genomes]
rs2942370	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2954111	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2954112	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7967415	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv9816	chr12:122138748-122142224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122138600-122142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122139000-122141400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:122139200-122141400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:122139600-122141200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:122139800-122141200	Enhancers	Psoas Muscle	Psoas
7	chr12:122140000-122141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:122140800-122141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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

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