Variant report

Variant	rs73004268
Chromosome Location	chr2:151129404-151129405
allele	A/G
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]
rs10930047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11890848	1.00[ASN][1000 genomes]
rs12105156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12105546	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55752244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56812074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58559187	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004270	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004271	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004276	1.00[ASN][1000 genomes]
rs73004278	1.00[ASN][1000 genomes]
rs73004279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004280	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004285	1.00[ASN][1000 genomes]
rs7558183	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr2:151113000-151138400	Weak transcription	Liver	Liver
2	chr2:151127800-151131200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:151128000-151129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:151128000-151129600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:151128000-151129600	Enhancers	HSMM	muscle
6	chr2:151128000-151138400	Weak transcription	Psoas Muscle	Psoas
7	chr2:151128200-151129600	Enhancers	NHEK	skin
8	chr2:151128400-151129600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:151128400-151130000	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:151129000-151129600	Enhancers	A549	lung
11	chr2:151129000-151130000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:151129200-151130200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:151129200-151130200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:151129200-151130200	Weak transcription	NHDF-Ad	bronchial
15	chr2:151129200-151130600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:151129200-151130600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:151129200-151130600	Weak transcription	HMEC	breast
18	chr2:151129200-151130600	Weak transcription	NHLF	lung
19	chr2:151129400-151131000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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