Variant report

Variant	rs10505338
Chromosome Location	chr8:119755490-119755491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11773998	0.81[ASN][1000 genomes]
rs11774004	0.81[ASN][1000 genomes]
rs11775542	1.00[ASN][1000 genomes]
rs1493931	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17683860	0.81[ASN][1000 genomes]
rs17757460	0.81[ASN][1000 genomes]
rs17830529	0.81[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	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10505338	KIAA1958	cis	Cerebellum	GTEx
rs10505338	LOC284297	cis	Cerebellum	GTEx
rs10505338	NIF3L1	cis	Cerebellum	GTEx
rs10505338	ZNF341	cis	Cerebellum	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119744400-119755600	Weak transcription	Aorta	Aorta
2	chr8:119751200-119755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:119751200-119755600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:119754800-119755800	Enhancers	Brain Substantia Nigra	brain
5	chr8:119754800-119756400	Enhancers	Brain Hippocampus Middle	brain
6	chr8:119754800-119762200	Enhancers	NHDF-Ad	bronchial
7	chr8:119755000-119755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:119755000-119755800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:119755000-119756000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:119755200-119755600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:119755200-119756400	Enhancers	Fetal Lung	lung
12	chr8:119755200-119758400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119755200-119759400	Enhancers	NHLF	lung
14	chr8:119755200-119761400	Enhancers	Osteobl	bone
15	chr8:119755400-119756200	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:119755400-119758400	Enhancers	Hela-S3	cervix
17	chr8:119755400-119762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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