Variant report

Variant	rs55663230
Chromosome Location	chr5:115680211-115680212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17139524	0.93[ASN][1000 genomes]
rs17139532	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55742067	0.87[ASN][1000 genomes]
rs55857351	0.96[ASN][1000 genomes]
rs56317742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370685	0.94[ASN][1000 genomes]
rs57209700	0.95[ASN][1000 genomes]
rs72808945	0.81[ASN][1000 genomes]
rs72808952	0.82[ASN][1000 genomes]
rs72808958	0.87[ASN][1000 genomes]
rs72808959	0.87[ASN][1000 genomes]
rs72808960	0.88[ASN][1000 genomes]
rs72808961	0.94[ASN][1000 genomes]
rs72808964	0.88[ASN][1000 genomes]
rs72808969	0.93[ASN][1000 genomes]
rs72808973	0.93[ASN][1000 genomes]
rs72808977	0.88[ASN][1000 genomes]
rs72808978	0.85[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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
2	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115672200-115683400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:115677800-115682200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:115678000-115683200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:115678400-115684000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:115679000-115680400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:115679000-115686800	Weak transcription	Primary T cells from cord blood	blood
9	chr5:115679200-115681000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:115679800-115686800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:115679800-115686800	Weak transcription	Left Ventricle	heart
12	chr5:115680000-115680600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:115680000-115683800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:115680000-115684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:115680000-115693200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:115680200-115684000	Weak transcription	Aorta	Aorta

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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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