Variant report

Variant	rs57945861
Chromosome Location	chr2:20211293-20211294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000132031	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11886357	0.81[EUR][1000 genomes]
rs11896116	0.84[EUR][1000 genomes]
rs11896842	0.81[EUR][1000 genomes]
rs1985054	0.84[EUR][1000 genomes]
rs2290945	0.84[EUR][1000 genomes]
rs34169020	0.84[EUR][1000 genomes]
rs6713662	0.84[EUR][1000 genomes]
rs73220315	0.91[EUR][1000 genomes]
rs73220327	0.81[EUR][1000 genomes]
rs73220333	0.81[EUR][1000 genomes]
rs73220335	0.81[EUR][1000 genomes]
rs73220338	0.81[EUR][1000 genomes]
rs7558158	0.81[EUR][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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:20200200-20211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:20201800-20211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:20201800-20212400	Weak transcription	Gastric	stomach
5	chr2:20210000-20211600	Flanking Active TSS	HepG2	liver
6	chr2:20210400-20211400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:20210400-20212800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20210600-20211400	Enhancers	A549	lung
9	chr2:20210800-20211400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:20211000-20211400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:20211200-20211600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:20211200-20212000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search:

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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