Variant report

Variant	rs1269068
Chromosome Location	chr14:65767333-65767334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10047879	1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11621121	0.95[MEX][hapmap]
rs11621604	0.91[MEX][hapmap]
rs11627598	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1256536	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1256540	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880725	0.80[AMR][1000 genomes];0.84[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];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

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
rs1269068	FUT8	cis	cerebellum	SCAN

Chromatin state (count:33 , 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	chr14:65758800-65770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
4	chr14:65760000-65781000	Weak transcription	Primary B cells from cord blood	blood
5	chr14:65763200-65774200	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:65763800-65771200	Enhancers	Fetal Intestine Small	intestine
7	chr14:65765000-65769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:65765400-65768600	Weak transcription	Pancreas	Pancrea
9	chr14:65766000-65768000	Enhancers	Primary T cells from cord blood	blood
10	chr14:65766000-65771200	Enhancers	Fetal Intestine Large	intestine
11	chr14:65766000-65772400	Enhancers	Stomach Mucosa	stomach
12	chr14:65766200-65767400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:65766200-65767400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:65766200-65767400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:65766200-65767600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:65766400-65770600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:65766600-65768600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:65766600-65768800	Enhancers	HepG2	liver
19	chr14:65766600-65771200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:65766800-65767400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:65766800-65767800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:65766800-65768000	Weak transcription	Small Intestine	intestine
23	chr14:65766800-65768600	Weak transcription	Thymus	Thymus
24	chr14:65766800-65768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:65767000-65768600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:65767000-65768600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:65767000-65768600	Weak transcription	Fetal Thymus	thymus
28	chr14:65767000-65769000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:65767000-65769000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:65767000-65769600	Weak transcription	Colonic Mucosa	Colon
31	chr14:65767200-65767400	Flanking Active TSS	GM12878-XiMat	blood
32	chr14:65767200-65767600	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:65767200-65770200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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