Variant report

Variant	rs530979218
Chromosome Location	chr1:62654676-62654677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv546418	chr1:62646182-62656809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv546419	chr1:62650550-62656809	Weak transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3452297	chr1:62652564-62657162	Weak transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv819557	chr1:62652920-62657976	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3452299	chr1:62654164-62658462	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3452295	chr1:62654286-62657413	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3452300	chr1:62654603-62657288	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3452296	chr1:62654654-62657261	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv823009	chr1:62654665-62657067	Weak transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv821202	chr1:62654665-62657214	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv823020	chr1:62654665-62657214	Weak transcription Enhancers Bivalent Enhancer	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62646600-62660400	Weak transcription	Right Atrium	heart
2	chr1:62649800-62660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:62650400-62658400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62650400-62658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:62652000-62660200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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