Variant report

Variant	rs1622461
Chromosome Location	chr20:23902884-23902885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1619958	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1627002	0.81[AMR][1000 genomes]
rs1741624	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1741625	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1741631	0.81[AMR][1000 genomes]
rs1741633	0.81[AMR][1000 genomes]
rs1797033	0.81[AMR][1000 genomes]
rs1797034	0.81[AMR][1000 genomes]
rs1797038	0.81[AMR][1000 genomes]
rs1797039	0.81[AMR][1000 genomes]
rs1797040	0.81[AMR][1000 genomes]
rs1797041	0.81[AMR][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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1062441	chr20:23861343-23955100	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv979494	chr20:23900040-23910180	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv964383	chr20:23902782-23905019	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23897400-23903000	Enhancers	Fetal Muscle Trunk	muscle
2	chr20:23897400-23903200	Enhancers	Fetal Muscle Leg	muscle
3	chr20:23898600-23903200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr20:23899400-23903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr20:23899600-23903000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr20:23902000-23904400	Weak transcription	Pancreas	Pancrea
7	chr20:23902000-23907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr20:23902000-23907800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr20:23902200-23907200	Weak transcription	NHDF-Ad	bronchial
10	chr20:23902400-23909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23902600-23906400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr20:23902600-23907600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr20:23902600-23909200	Weak transcription	Fetal Thymus	thymus
14	chr20:23902800-23903000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:23902800-23903400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:23902800-23905800	Weak transcription	Primary T helper naive cells from peripheral blood	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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