Variant report

Variant	rs12586675
Chromosome Location	chr14:33093831-33093832
allele	A/T
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:17)

rs_ID	r²[population]
rs10139885	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11626506	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627076	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627566	0.81[AMR][1000 genomes]
rs12147120	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12586676	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888621	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1956201	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1956220	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2180449	0.81[AMR][1000 genomes]
rs7152377	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7153041	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154943	0.94[EUR][1000 genomes]
rs7159519	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016257	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8021432	0.87[EUR][1000 genomes]
rs983766	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
5	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:33089600-33102600	Weak transcription	Psoas Muscle	Psoas
7	chr14:33091000-33095000	Weak transcription	HSMMtube	muscle
8	chr14:33092200-33096600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:33092400-33102800	Weak transcription	Right Ventricle	heart
10	chr14:33093000-33096200	Weak transcription	Fetal Heart	heart
11	chr14:33093200-33098200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:33093200-33098200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:33093200-33102800	Weak transcription	Left Ventricle	heart
14	chr14:33093200-33103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:33093200-33104200	Weak transcription	HSMM	muscle
16	chr14:33093400-33097000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:33093600-33094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:33093800-33094000	Enhancers	NHDF-Ad	bronchial
19	chr14:33093800-33104000	Weak transcription	HUES48 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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