Variant report

Variant	rs496267
Chromosome Location	chr1:114616228-114616229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10858027	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102725	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11102726	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11585525	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11585561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12123649	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125801	0.96[EUR][1000 genomes]
rs12239127	1.00[JPT][hapmap]
rs1503835	0.90[AFR][1000 genomes]
rs1532772	0.81[EUR][1000 genomes]
rs1847389	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938348	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4240538	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4839003	1.00[MEX][hapmap]
rs6687019	0.92[EUR][1000 genomes]
rs6690072	0.97[EUR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114614400-114616400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr1:114614600-114616600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr1:114615000-114618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:114615800-114617600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:114616000-114616600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:114616000-114616800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:114616000-114617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:114616200-114617200	Weak transcription	HUES64 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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