Variant report

Variant	rs2088155
Chromosome Location	chr12:56845303-56845304
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56841852..56845371-chr12:56847401..56851228,5	MCF-7	breast:
2	chr12:56660541..56662751-chr12:56842837..56845595,2	MCF-7	breast:
3	chr12:56843620..56845384-chr12:56856512..56859341,2	MCF-7	breast:
4	chr12:56684593..56687796-chr12:56843466..56846385,3	K562	blood:
5	chr12:56841526..56846188-chr12:56861608..56864760,4	K562	blood:
6	chr12:56694168..56697773-chr12:56844994..56848414,3	K562	blood:
7	chr12:56726826..56730263-chr12:56843766..56846381,3	K562	blood:
8	chr12:56708201..56710569-chr12:56844872..56847052,2	MCF-7	breast:
9	chr12:56832209..56834419-chr12:56844389..56847772,3	K562	blood:
10	chr12:56753916..56755760-chr12:56841528..56845904,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000135473	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000257303	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1826730	0.95[ASN][1000 genomes]
rs2269348	0.99[ASN][1000 genomes]
rs4630333	0.89[ASN][1000 genomes]
rs61937720	0.93[ASN][1000 genomes]
rs7302060	0.82[ASN][1000 genomes]
rs7313455	0.91[ASN][1000 genomes]
rs7953824	0.99[ASN][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56843600-56845400	Enhancers	Fetal Thymus	thymus
2	chr12:56843600-56852800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:56843800-56845400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:56843800-56858000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:56844000-56846200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:56844600-56846600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:56844600-56848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:56844800-56847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56845000-56847000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:56845000-56848000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:56845000-56856400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:56845200-56845400	Enhancers	K562	blood
13	chr12:56845200-56847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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