Variant report

Variant	rs72833468
Chromosome Location	chr17:45949338-45949339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45937572..45940209-chr17:45947764..45950452,2	K562	blood:
2	chr17:45922247..45925799-chr17:45947598..45950911,3	K562	blood:
3	chr17:45932447..45934017-chr17:45946949..45949392,2	K562	blood:
4	chr17:45922247..45924447-chr17:45948700..45950911,2	K562	blood:
5	chr17:45926872..45930538-chr17:45948934..45951348,3	MCF-7	breast:
6	chr17:45932447..45935433-chr17:45945391..45949392,4	K562	blood:
7	chr17:45929322..45931264-chr17:45947202..45949879,3	K562	blood:
8	chr17:45908736..45910591-chr17:45948228..45950847,2	MCF-7	breast:
9	chr17:45944200..45947403-chr17:45947781..45950408,6	K562	blood:

No data

No data

No data

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56104550	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72823509	0.82[AMR][1000 genomes]
rs72833479	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45943000-45950000	Weak transcription	HSMM	muscle
2	chr17:45946000-45949600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:45947800-45949400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:45948000-45950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45948200-45949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:45948200-45949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:45948400-45949600	Weak transcription	K562	blood
8	chr17:45948800-45951200	Bivalent Enhancer	Fetal Thymus	thymus
9	chr17:45949200-45949400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:45949200-45949400	Bivalent Enhancer	NHEK	skin
11	chr17:45949200-45949600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:45949200-45949600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:45949200-45949600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:45949200-45949600	Enhancers	Placenta	Placenta
15	chr17:45949200-45949800	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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