Variant report

Variant	rs531404583
Chromosome Location	chr1:152278237-152278238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3322880	chr1:152274354-152281047	Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1810816	chr1:152274993-152286236	Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1827528	chr1:152274993-152286236	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1812211	chr1:152275193-152286036	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1826389	chr1:152275193-152286036	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3523401	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3523402	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3354621	chr1:152276028-152280726	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv3395707	chr1:152276067-152282031	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv20418	chr1:152277700-152279580	Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv821364	chr1:152277700-152279580	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3383471	chr1:152278075-152278798	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152274200-152279600	Weak transcription	Fetal Lung	lung
3	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:152276000-152279600	Weak transcription	Pancreas	Pancrea
5	chr1:152276000-152279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:152277000-152279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:152277600-152279600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:152277600-152280600	Weak transcription	Esophagus	oesophagus
10	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart

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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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