Variant report

Variant	rs4514267
Chromosome Location	chr1:62861093-62861094
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789110	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10889325	1.00[ASN][1000 genomes]
rs10889326	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1413821	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1473754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123603	0.87[ASN][1000 genomes]
rs1886829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104448	0.89[ASN][1000 genomes]
rs3861942	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4915615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915833	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4915834	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4915837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60459828	0.88[ASN][1000 genomes]
rs6693540	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72929746	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7512888	1.00[ASN][1000 genomes]
rs7543765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62848000-62871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62856200-62862400	Weak transcription	NHEK	skin
3	chr1:62856800-62861400	Enhancers	HepG2	liver
4	chr1:62859600-62862400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:62859800-62861400	Enhancers	Brain Substantia Nigra	brain
6	chr1:62860200-62861200	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:62860200-62861200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:62860400-62861400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:62860600-62861200	Enhancers	Brain Anterior Caudate	brain
10	chr1:62860600-62861200	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:62860800-62861200	Enhancers	Brain Angular Gyrus	brain
12	chr1:62860800-62861200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:62860800-62861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:62860800-62861600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:62861000-62861200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:62861000-62865600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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