Variant report

Variant	rs73966735
Chromosome Location	chr2:150938246-150938247
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16827753	0.86[EUR][1000 genomes]
rs16827839	1.00[ASN][1000 genomes]
rs16827847	1.00[ASN][1000 genomes]
rs16827853	0.83[ASN][1000 genomes]
rs60312719	0.82[EUR][1000 genomes]
rs61074717	0.82[EUR][1000 genomes]
rs61646015	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000474	0.86[EUR][1000 genomes]
rs73968325	1.00[ASN][1000 genomes]
rs895410	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv875285	chr2:150904671-150985765	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150933200-150938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:150933200-150938600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:150933400-150938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:150936200-150939800	Enhancers	HUVEC	blood vessel
5	chr2:150937000-150938800	Weak transcription	A549	lung
6	chr2:150937400-150938400	Weak transcription	Ovary	ovary
7	chr2:150937400-150945200	Weak transcription	NH-A	brain
8	chr2:150938000-150939000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:150938000-150939200	Enhancers	NHDF-Ad	bronchial
10	chr2:150938200-150938400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:150938200-150938600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:150938200-150938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:150938200-150939000	Enhancers	Fetal Kidney	kidney
14	chr2:150938200-150939200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:150938200-150939200	Enhancers	Fetal Stomach	stomach
16	chr2:150938200-150939400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:150938200-150939400	Enhancers	Fetal Lung	lung

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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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