Variant report

Variant	rs66482567
Chromosome Location	chr2:20213867-20213868
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: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	chr2:20188544..20190994-chr2:20211302..20213941,2	MCF-7	breast:
2	chr2:20212605..20214922-chr2:20216980..20220655,3	MCF-7	breast:
3	chr2:20212620..20214988-chr2:20250395..20252051,2	MCF-7	breast:
4	chr2:20196234..20199275-chr2:20211073..20214096,3	MCF-7	breast:
5	chr2:20213367..20215755-chr2:20296083..20298973,4	MCF-7	breast:
6	chr2:20213655..20215850-chr2:20273111..20274656,2	MCF-7	breast:
7	chr2:20213361..20215470-chr2:20241959..20243915,2	MCF-7	breast:
8	chr2:20187710..20189541-chr2:20212607..20214933,2	K562	blood:
9	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
10	chr2:20187189..20189541-chr2:20212582..20214933,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000118965	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000227210	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11680554	0.81[AMR][1000 genomes]
rs11681705	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12986437	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13005512	0.81[AMR][1000 genomes]
rs17695872	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28452699	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34741640	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67915887	0.83[AMR][1000 genomes];0.90[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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:20212800-20216200	Weak transcription	HMEC	breast
2	chr2:20213000-20216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20213000-20218400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:20213000-20220600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:20213000-20227200	Weak transcription	Ovary	ovary
6	chr2:20213200-20217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:20213200-20218400	Weak transcription	Fetal Heart	heart
8	chr2:20213200-20225000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:20213200-20227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:20213200-20227000	Weak transcription	Aorta	Aorta
11	chr2:20213400-20214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
13	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
14	chr2:20213600-20214000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:20213600-20216600	Enhancers	HepG2	liver
16	chr2:20213600-20227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:20213800-20214200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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