Variant report

Variant	rs9441847
Chromosome Location	chr1:222986816-222986817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10495203	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17475718	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378613	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61838116	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61839596	0.96[EUR][1000 genomes];0.84[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9441847	DISP1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222983600-222987800	Enhancers	HepG2	liver
3	chr1:222984200-222987200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:222985400-222987200	Weak transcription	Fetal Kidney	kidney
5	chr1:222985600-222987000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:222986400-222987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:222986400-222987800	Enhancers	NHLF	lung
8	chr1:222986600-222987200	Enhancers	NH-A	brain
9	chr1:222986600-222987400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:222986600-222988000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:222986800-222987200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:222986800-222987400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:222986800-222987400	Enhancers	Osteobl	bone
14	chr1:222986800-222987600	Enhancers	Fetal Intestine Small	intestine
15	chr1:222986800-222987600	Enhancers	NHDF-Ad	bronchial

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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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