Variant report

Variant	rs544218698
Chromosome Location	chr2:133672860-133672861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
5	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv583159	chr2:133667285-133678457	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3519229	chr2:133669598-133674970	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3519227	chr2:133670682-133675580	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3519231	chr2:133671132-133674970	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3519228	chr2:133671132-133675530	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv11729	chr2:133672188-133674783	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv583160	chr2:133672718-133674029	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv583161	chr2:133672718-133674090	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv583162	chr2:133672718-133674507	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv583163	chr2:133672718-133674562	Enhancers Genic enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv583164	chr2:133672853-133674507	Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133670400-133673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:133672200-133673600	Enhancers	Fetal Heart	heart
6	chr2:133672600-133673000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133672600-133674200	Enhancers	Adipose Nuclei	Adipose
8	chr2:133672800-133673000	Enhancers	Lung	lung
9	chr2:133672800-133673200	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:133672800-133673400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:133672800-133673400	Enhancers	Right Atrium	heart
12	chr2:133672800-133674000	Enhancers	Fetal Lung	lung
13	chr2:133672800-133674000	Enhancers	Right Ventricle	heart
14	chr2:133672800-133674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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