Variant report

Variant	rs12233855
Chromosome Location	chr4:124344717-124344718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12641957	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs12644710	0.81[ASN][1000 genomes]
rs12650992	0.81[ASN][1000 genomes]
rs13137748	0.81[ASN][1000 genomes]
rs2390522	0.96[ASN][1000 genomes]
rs301321	0.81[ASN][1000 genomes]
rs366043	0.95[ASN][1000 genomes]
rs449103	0.95[ASN][1000 genomes]
rs4600929	0.81[ASN][1000 genomes]
rs4833912	0.96[ASN][1000 genomes]
rs4833915	0.82[ASN][1000 genomes]
rs7665238	0.85[ASN][1000 genomes]
rs7681820	0.87[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]

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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv595379	chr4:124337522-124395024	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv516959	chr4:124342509-124344717	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124339200-124349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:124340000-124344800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:124340600-124348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:124343200-124344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:124343400-124345400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:124343600-124345800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:124343800-124344800	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:124343800-124344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:124344200-124344800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr4:124344400-124344800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:124344600-124344800	Enhancers	Fetal Thymus	thymus
12	chr4:124344600-124345000	Enhancers	K562	blood

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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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