Variant report

Variant	rs56173730
Chromosome Location	chr2:173190881-173190882
allele	C/T
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:14)

rs_ID	r²[population]
rs4496307	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889669	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011402	0.84[EUR][1000 genomes]
rs56019642	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56207281	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57473898	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57540835	0.84[EUR][1000 genomes]
rs60492030	0.88[EUR][1000 genomes]
rs66486916	0.83[EUR][1000 genomes]
rs68170745	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72882697	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72884220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72886051	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr2:173189000-173192200	Weak transcription	Fetal Kidney	kidney
2	chr2:173189200-173193800	Weak transcription	Spleen	Spleen
3	chr2:173189400-173193400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:173189600-173191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:173189600-173194000	Weak transcription	Fetal Thymus	thymus
6	chr2:173190200-173191200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:173190200-173191200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173190200-173191200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:173190200-173191200	Enhancers	HSMMtube	muscle
10	chr2:173190200-173191200	Enhancers	NH-A	brain
11	chr2:173190200-173191200	Enhancers	Osteobl	bone
12	chr2:173190200-173191600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:173190200-173191600	Enhancers	NHDF-Ad	bronchial
14	chr2:173190400-173191000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:173190400-173191600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:173190600-173191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:173190800-173191200	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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