Variant report

Variant	rs2589350
Chromosome Location	chr8:35361998-35361999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1371153	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1439161	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2579880	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2579882	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2579884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2579894	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2579895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2589329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2589330	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2589332	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2589344	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2589345	0.82[EUR][1000 genomes]
rs2589349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589745	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2589748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2589756	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2589757	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2589759	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2589765	1.00[ASN][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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024397	chr8:35296922-35424277	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35356400-35391200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:35359200-35371600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:35359800-35397200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:35361600-35362000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:35361600-35362000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:35361600-35362200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:35361600-35366000	Weak transcription	Fetal Brain Female	brain
8	chr8:35361800-35362000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:35361800-35362400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:35361800-35362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:35361800-35362600	Enhancers	hESC Derived CD56+ Ectoderm Cultured 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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