Variant report

Variant	rs1256540
Chromosome Location	chr14:65764069-65764070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10047879	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11621121	0.91[MEX][hapmap]
rs11621604	0.87[MEX][hapmap]
rs11627598	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1256536	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1269068	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880725	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12893094	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1760978	0.80[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1954052	0.82[MKK][hapmap];1.00[YRI][hapmap]
rs7157006	0.81[AFR][1000 genomes]
rs747541	1.00[YRI][hapmap]

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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv515522	chr14:65746566-65771110	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1256540	FUT8	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65754600-65768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:65754800-65764400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:65758800-65764400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:65758800-65770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
6	chr14:65759000-65764600	Weak transcription	Colonic Mucosa	Colon
7	chr14:65759000-65766000	Weak transcription	Fetal Thymus	thymus
8	chr14:65759000-65766000	Weak transcription	Thymus	Thymus
9	chr14:65759800-65766000	Weak transcription	Primary T cells from cord blood	blood
10	chr14:65759800-65766200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:65760000-65781000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:65763200-65764600	Enhancers	HepG2	liver
13	chr14:65763200-65774200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:65763600-65764200	Enhancers	Pancreas	Pancrea
15	chr14:65763600-65765600	Enhancers	Stomach Mucosa	stomach
16	chr14:65763800-65765200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:65763800-65765600	Flanking Active TSS	GM12878-XiMat	blood
18	chr14:65763800-65766200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:65763800-65771200	Enhancers	Fetal Intestine Small	intestine

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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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