Variant report

Variant	rs11930183
Chromosome Location	chr4:55779286-55779287
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1497481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085066	1.00[AMR][1000 genomes]
rs57190330	1.00[AMR][1000 genomes]
rs59384774	1.00[AMR][1000 genomes]
rs60067051	1.00[AMR][1000 genomes]
rs6826761	1.00[AMR][1000 genomes]
rs6835605	1.00[AMR][1000 genomes]
rs73816854	1.00[AMR][1000 genomes]
rs73816855	1.00[AMR][1000 genomes]
rs73816856	1.00[AMR][1000 genomes]
rs73818439	1.00[AMR][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	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
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55769600-55780200	Weak transcription	Aorta	Aorta
2	chr4:55776600-55779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:55776600-55780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:55776800-55779800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:55777000-55780000	Weak transcription	Fetal Stomach	stomach
6	chr4:55778000-55780200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:55778600-55779400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:55778600-55779800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:55778600-55779800	Weak transcription	Left Ventricle	heart
10	chr4:55778600-55779800	Weak transcription	Right Atrium	heart
11	chr4:55778600-55780000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:55778600-55780400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:55778800-55780000	Weak transcription	Esophagus	oesophagus
14	chr4:55778800-55781400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:55779000-55779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:55779200-55780800	Enhancers	Primary hematopoietic stem cells	blood

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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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