Variant report

Variant	rs1168558
Chromosome Location	chr14:38874701-38874702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1168567	0.83[AMR][1000 genomes]
rs1177561	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	esv1846932	chr14:38842788-38944821	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv510632	chr14:38868313-38939927	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv564409	chr14:38870456-38930054	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1168558	BRMS1L	cis	cerebellum	SCAN
rs1168558	SRP54	cis	cerebellum	SCAN
rs1168558	NKX2-1	cis	cerebellum	SCAN
rs1168558	CFL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38868600-38879800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:38870000-38876000	Enhancers	HUVEC	blood vessel
3	chr14:38870400-38876200	Enhancers	NHLF	lung
4	chr14:38870800-38875800	Enhancers	Hela-S3	cervix
5	chr14:38870800-38876600	Enhancers	NHDF-Ad	bronchial
6	chr14:38870800-38876800	Enhancers	HSMM	muscle
7	chr14:38871000-38876400	Enhancers	HSMMtube	muscle
8	chr14:38871800-38879000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:38873000-38875400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:38873200-38875800	Enhancers	Fetal Lung	lung
11	chr14:38874000-38875400	Enhancers	NH-A	brain
12	chr14:38874400-38874800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:38874400-38875400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:38874400-38876600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:38874600-38875000	Enhancers	Fetal Kidney	kidney
16	chr14:38874600-38875800	Enhancers	Fetal Heart	heart
17	chr14:38874600-38878800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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