Variant report

Variant	rs1168551
Chromosome Location	chr14:38859403-38859404
allele	A/G
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:5)

rs_ID	r²[population]
rs1168550	0.80[ASN][1000 genomes]
rs1184875	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12184989	0.81[ASN][1000 genomes]
rs17531891	0.82[ASN][1000 genomes]
rs4901851	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv530640	chr14:38702117-38927901	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv901654	chr14:38822190-38870456	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2754119	chr14:38825349-38988849	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv1846932	chr14:38842788-38944821	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1168551	MIA2	cis	cerebellum	SCAN
rs1168551	STX18	trans	parietal	SCAN
rs1168551	FAM177A1	cis	cerebellum	SCAN
rs1168551	NKX2-1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38856600-38861200	Enhancers	NHDF-Ad	bronchial
2	chr14:38858600-38860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:38859000-38859800	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:38859000-38860000	Enhancers	Fetal Stomach	stomach
5	chr14:38859200-38860000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:38859200-38860000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:38859200-38860000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:38859200-38860000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:38859200-38860000	Enhancers	Gastric	stomach
10	chr14:38859200-38860400	Enhancers	Colon Smooth Muscle	Colon
11	chr14:38859200-38860400	Enhancers	HUVEC	blood vessel

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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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