Variant report

Variant	rs4814418
Chromosome Location	chr20:15924387-15924388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1339255	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1416557	1.00[EUR][1000 genomes]
rs175780	1.00[CEU][hapmap]
rs2143550	1.00[CEU][hapmap]
rs2423987	1.00[CEU][hapmap]
rs4814421	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6034337	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6034338	1.00[EUR][1000 genomes]
rs6043602	1.00[CEU][hapmap]
rs6043624	1.00[CEU][hapmap]
rs6043627	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6043632	1.00[CEU][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6043638	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6080022	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs717146	1.00[CEU][hapmap]
rs7352227	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs775094	1.00[CEU][hapmap]
rs775096	1.00[CEU][hapmap]
rs811343	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15912000-15930200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:15921400-15928000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:15923000-15951200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr20:15923200-15930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:15924000-15924400	Enhancers	Fetal Intestine Large	intestine
6	chr20:15924000-15925600	Weak transcription	Primary B cells from cord blood	blood
7	chr20:15924200-15926400	Weak transcription	HSMM	muscle
8	chr20:15924200-15930200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:15924200-15930200	Weak transcription	Hela-S3	cervix
10	chr20:15924200-15938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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