Variant report

Variant	rs11622704
Chromosome Location	chr14:56473049-56473050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1188164	0.80[ASN][1000 genomes]
rs1188189	0.94[ASN][1000 genomes]
rs1188195	0.94[ASN][1000 genomes]
rs1188201	0.91[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs1188202	0.83[ASN][1000 genomes]
rs8015854	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs922653	0.89[ASN][1000 genomes]
rs922654	0.89[ASN][1000 genomes]
rs922656	0.91[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	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:56470800-56473200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:56471000-56473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:56472000-56473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:56472200-56473200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr14:56472200-56474200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:56472400-56473200	Enhancers	Adipose Nuclei	Adipose
8	chr14:56472400-56473200	Enhancers	NHDF-Ad	bronchial
9	chr14:56472400-56474400	Weak transcription	Primary B cells from cord blood	blood
10	chr14:56472600-56473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:56472600-56473400	Enhancers	Fetal Intestine Large	intestine
12	chr14:56472600-56473400	Enhancers	Fetal Intestine Small	intestine
13	chr14:56472800-56473200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:56472800-56473200	Enhancers	Ovary	ovary
15	chr14:56472800-56473200	Enhancers	NH-A	brain
16	chr14:56472800-56474000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:56472800-56474400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:56472800-56474400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:56473000-56474400	Weak transcription	ES-I3 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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