Variant report

Variant	rs17753209
Chromosome Location	chr8:118664542-118664543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1508564	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1508565	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890085	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17753221	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17753372	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17753630	1.00[AFR][1000 genomes]
rs17815416	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17815428	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17815452	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17815523	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17815657	1.00[AFR][1000 genomes]
rs17815776	1.00[AFR][1000 genomes]
rs2136106	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 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	chr8:118663000-118664600	Weak transcription	NH-A	brain
2	chr8:118663000-118665400	Weak transcription	Fetal Stomach	stomach
3	chr8:118663000-118666000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:118663000-118666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:118663000-118666000	Weak transcription	NHEK	skin
6	chr8:118663000-118675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118663000-118675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:118663000-118676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:118663000-118677000	Weak transcription	HSMM	muscle
10	chr8:118663000-118679200	Weak transcription	Aorta	Aorta
11	chr8:118663200-118666000	Weak transcription	HMEC	breast
12	chr8:118663200-118667000	Weak transcription	Liver	Liver
13	chr8:118663200-118675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:118663600-118666200	Weak transcription	HepG2	liver
15	chr8:118664200-118664600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:118664200-118664600	Enhancers	HSMMtube	muscle
17	chr8:118664200-118664800	Enhancers	Primary T cells from cord blood	blood
18	chr8:118664400-118664600	Enhancers	Primary T helper cells PMA-I stimulated	--

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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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