Variant report

Variant	rs1498275
Chromosome Location	chr1:216769001-216769002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11117617	0.88[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs11572623	1.00[MEX][hapmap]
rs11572752	0.82[YRI][hapmap]
rs11572755	0.82[YRI][hapmap]
rs11572788	1.00[YRI][hapmap]
rs11799377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374234	0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042935	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17042952	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17042975	1.00[MEX][hapmap]
rs1846225	1.00[AMR][1000 genomes]
rs6665792	1.00[AMR][1000 genomes]
rs6676237	0.85[YRI][hapmap]
rs9308377	1.00[YRI][hapmap];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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:216764800-216769400	Weak transcription	Left Ventricle	heart
4	chr1:216764800-216773400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:216767800-216770000	Enhancers	Fetal Heart	heart
6	chr1:216768800-216770200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:216769000-216769800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:216769000-216770000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:216769000-216770000	Enhancers	iPS-20b 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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