Variant report

Variant	rs1811283
Chromosome Location	chr8:39783657-39783658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11777027	0.85[EUR][1000 genomes]
rs1861903	0.84[EUR][1000 genomes]
rs1981789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340953	0.83[EUR][1000 genomes]
rs2543041	0.84[EUR][1000 genomes]
rs4144406	0.85[EUR][1000 genomes]
rs4737159	0.85[EUR][1000 genomes]
rs6474198	0.81[EUR][1000 genomes]
rs6991530	0.92[EUR][1000 genomes]
rs7825461	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7846217	0.89[EUR][1000 genomes]

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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv508505	chr8:39730094-39791331	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39763200-39783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:39771600-39797200	Weak transcription	Right Atrium	heart
3	chr8:39781000-39786000	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr8:39782400-39783800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:39782400-39787000	Weak transcription	HUVEC	blood vessel
6	chr8:39782600-39785000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:39782600-39785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:39782800-39784200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:39782800-39785800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:39782800-39786000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:39782800-39790000	Weak transcription	Fetal Lung	lung
12	chr8:39783000-39783800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:39783000-39785800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:39783000-39787200	Weak transcription	K562	blood
15	chr8:39783000-39792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:39783200-39790800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:39783600-39786000	Strong transcription	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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