Variant report

Variant	rs10149004
Chromosome Location	chr14:65833499-65833500
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:3)

rs_ID	r²[population]
rs59517039	0.81[ASN][1000 genomes]
rs6573606	0.84[EUR][1000 genomes]
rs73280132	0.81[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	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10149004	C14orf50	cis	cerebellum	SCAN
rs10149004	FUT8	cis	cerebellum	SCAN
rs10149004	FLJ43390	cis	cerebellum	SCAN
rs10149004	FUT8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65822600-65834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65824400-65839800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:65824600-65839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:65824800-65836200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:65826400-65840000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:65829200-65840000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:65829400-65833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:65829400-65834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:65831600-65833600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:65832800-65834200	Enhancers	GM12878-XiMat	blood
11	chr14:65833200-65834400	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:65833200-65834600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:65833200-65834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:65833400-65833800	Enhancers	Primary B cells from cord blood	blood
15	chr14:65833400-65834200	Enhancers	Adipose Nuclei	Adipose
16	chr14:65833400-65834400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:65833400-65834600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:65833400-65834800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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