Variant report

Variant	rs17508949
Chromosome Location	chr18:9637626-9637627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12958417	1.00[ASW][hapmap]
rs329003	1.00[ASW][hapmap]
rs329024	1.00[ASW][hapmap]
rs62078860	1.00[AFR][1000 genomes]
rs62080302	0.81[AMR][1000 genomes]
rs62080303	0.81[AMR][1000 genomes]
rs62080304	0.81[AMR][1000 genomes]
rs62080305	0.81[AMR][1000 genomes]
rs62080343	1.00[AFR][1000 genomes]
rs62080344	1.00[AFR][1000 genomes]
rs62080345	1.00[AFR][1000 genomes]
rs62080346	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17508949	SEH1L	cis	cerebellum	SCAN
rs17508949	APLN	trans	parietal	SCAN
rs17508949	NAPG	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9628000-9642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr18:9630800-9638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9631000-9638800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:9631200-9642000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:9632400-9638200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:9632400-9647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:9632600-9638600	Weak transcription	HUVEC	blood vessel
8	chr18:9633000-9638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9633800-9638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9635600-9638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:9636400-9639200	Weak transcription	Spleen	Spleen
12	chr18:9636600-9638200	Weak transcription	NHEK	skin
13	chr18:9636800-9637800	Enhancers	Placenta	Placenta
14	chr18:9637000-9638000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9637200-9637800	Enhancers	Osteobl	bone
16	chr18:9637200-9638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:9637400-9638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:9637600-9638800	Weak transcription	Muscle Satellite Cultured Cells	--

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

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