Variant report

Variant	rs4793688
Chromosome Location	chr17:45948412-45948413
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 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	chr17:45946630..45948795-chr17:46087511..46090189,2	K562	blood:
5	chr17:45932447..45935433-chr17:45945391..45949392,4	K562	blood:
6	chr17:45929322..45931264-chr17:45947202..45949879,3	K562	blood:
7	chr17:45908736..45910591-chr17:45948228..45950847,2	MCF-7	breast:
8	chr17:45944200..45947403-chr17:45947781..45950408,6	K562	blood:

No data

No data

No data

Extended variants
information (count: 22 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10428	0.82[JPT][hapmap]
rs11079797	0.82[JPT][hapmap]
rs11079799	0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11649750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871969	0.92[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs16948662	0.82[JPT][hapmap]
rs17617010	0.82[JPT][hapmap]
rs2010952	0.82[JPT][hapmap]
rs2074185	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs2325714	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4794224	0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4794318	0.82[JPT][hapmap]
rs60123006	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6503875	0.82[JPT][hapmap]
rs6503897	0.89[EUR][1000 genomes]
rs7212099	0.82[JPT][hapmap]
rs7214694	0.82[JPT][hapmap]
rs916798	0.82[JPT][hapmap]
rs9904503	0.82[JPT][hapmap]

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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4793688	CNTNAP1	cis	cerebellum	SCAN
rs4793688	ACBD4	cis	cerebellum	SCAN
rs4793688	SCRN2	cis	lung	GTEx
rs4793688	SCRN2	cis	Muscle Skeletal	GTEx
rs4793688	SCRN2	cis	Esophagus Mucosa	GTEx
rs4793688	KRTAP4-1	cis	parietal	SCAN
rs4793688	NMT1	cis	parietal	SCAN
rs4793688	AOC3	cis	parietal	SCAN
rs4793688	SCRN2	cis	Skin Sun Exposed Lower leg	GTEx
rs4793688	SCRN2	Cis_1M	lymphoblastoid	RTeQTL
rs4793688	OSBPL7	cis	Artery Aorta	GTEx

Chromatin state (count:12 , 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	chr17:45946600-45948600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr17:45947600-45948800	Enhancers	A549	lung
5	chr17:45947800-45949200	Weak transcription	Placenta	Placenta
6	chr17:45947800-45949400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:45948000-45948600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:45948000-45950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45948200-45949000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:45948200-45949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:45948200-45949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:45948400-45949600	Weak transcription	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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