Variant report

Variant	rs1956223
Chromosome Location	chr14:33082029-33082030
allele	C/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:18)

rs_ID	r²[population]
rs10141122	0.95[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs10144339	0.95[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10147066	0.92[EUR][1000 genomes]
rs10483416	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11844389	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11846446	0.83[EUR][1000 genomes]
rs12323757	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12323763	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12323766	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17515243	0.95[CEU][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1884619	0.95[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs34340539	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4981994	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7141374	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71419919	0.83[EUR][1000 genomes]
rs7142867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927062	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs983766	0.80[CHB][hapmap]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
3	chr14:33076000-33083200	Enhancers	NHDF-Ad	bronchial
4	chr14:33077600-33082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
8	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:33080600-33083600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:33081000-33082200	Enhancers	NHLF	lung
11	chr14:33081200-33083200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:33081200-33089600	Weak transcription	Fetal Heart	heart
13	chr14:33081400-33082600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain
15	chr14:33081600-33083400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:33081600-33090200	Weak transcription	HSMMtube	muscle
17	chr14:33081600-33091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:33081600-33091800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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