Variant report

Variant	rs2675980
Chromosome Location	chr5:40912096-40912097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1376182	0.87[ASN][1000 genomes]
rs1910016	0.88[ASN][1000 genomes]
rs404223	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:40905600-40915000	Weak transcription	Gastric	stomach
3	chr5:40908800-40916000	Active TSS	Stomach Smooth Muscle	stomach
4	chr5:40909200-40913200	Active TSS	Fetal Lung	lung
5	chr5:40909200-40916800	Active TSS	Right Atrium	heart
6	chr5:40909400-40912400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr5:40909400-40913600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:40909600-40915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:40909600-40915000	Active TSS	Ovary	ovary
10	chr5:40909800-40915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:40910000-40915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:40910200-40915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:40910600-40915000	Weak transcription	Liver	Liver
14	chr5:40911800-40914200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:40911800-40914600	Weak transcription	Fetal Heart	heart
16	chr5:40911800-40915000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:40911800-40915000	Weak transcription	Left Ventricle	heart
18	chr5:40912000-40914800	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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