Variant report

Variant	rs55643815
Chromosome Location	chr4:55557644-55557645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17084614	1.00[AMR][1000 genomes]
rs17084661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084684	0.85[AMR][1000 genomes]
rs55703521	1.00[AMR][1000 genomes]
rs56037117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58709258	0.87[AMR][1000 genomes]
rs6814083	1.00[AMR][1000 genomes]
rs6835928	1.00[AMR][1000 genomes]
rs72550821	1.00[AMR][1000 genomes]
rs73134083	1.00[AMR][1000 genomes]
rs73135814	1.00[AMR][1000 genomes]
rs73818384	0.87[AMR][1000 genomes]
rs73818386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73818390	0.85[AMR][1000 genomes]
rs7697550	1.00[AMR][1000 genomes]
rs9683978	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1009516	chr4:55548449-55560839	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:55546800-55558000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:55548000-55561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:55549200-55559200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:55551800-55561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:55554600-55559800	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:55554600-55562600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:55554600-55566400	Weak transcription	NH-A	brain
10	chr4:55555200-55559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
13	chr4:55556600-55561600	Weak transcription	Ovary	ovary
14	chr4:55556800-55558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:55556800-55558400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:55557200-55557800	Enhancers	Primary T cells from cord blood	blood
17	chr4:55557400-55558200	Enhancers	Fetal Thymus	thymus
18	chr4:55557600-55557800	Enhancers	Aorta	Aorta
19	chr4:55557600-55559600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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