Variant report

Variant	rs72853247
Chromosome Location	chr2:145555272-145555273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11674685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11675927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11681525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11689575	0.97[EUR][1000 genomes]
rs11691685	0.88[EUR][1000 genomes]
rs67365209	1.00[EUR][1000 genomes]
rs6752912	0.84[EUR][1000 genomes]
rs6756405	0.84[EUR][1000 genomes]
rs67963154	0.81[EUR][1000 genomes]
rs72852150	0.84[EUR][1000 genomes]
rs72852164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145546400-145559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145550400-145559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:145550600-145559600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:145553600-145555600	Enhancers	Fetal Lung	lung
5	chr2:145554000-145555600	Enhancers	Fetal Stomach	stomach
6	chr2:145554000-145556000	Enhancers	K562	blood
7	chr2:145554200-145559400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:145554400-145555400	Weak transcription	Fetal Brain Female	brain
9	chr2:145554400-145556200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:145554400-145558400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:145554400-145559400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:145554800-145559400	Weak transcription	Right Atrium	heart
13	chr2:145554800-145559600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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