Variant report

Variant	rs2296322
Chromosome Location	chr14:65478948-65478949
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3825642	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs45563031	0.90[EUR][1000 genomes]
rs45565742	0.90[EUR][1000 genomes]
rs55771504	0.88[EUR][1000 genomes]
rs55918235	0.90[EUR][1000 genomes]
rs55941898	0.90[EUR][1000 genomes]
rs56197624	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56323926	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72728236	0.83[EUR][1000 genomes]
rs72728245	0.85[EUR][1000 genomes]
rs72728253	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72728257	0.95[EUR][1000 genomes]
rs72728258	0.82[EUR][1000 genomes]
rs72728263	0.90[EUR][1000 genomes]
rs72728264	0.90[EUR][1000 genomes]
rs72728266	0.90[EUR][1000 genomes]
rs72728268	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2296322	FUT8	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65482800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
3	chr14:65455200-65479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:65457600-65479200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:65457600-65479200	Weak transcription	Right Ventricle	heart
6	chr14:65457600-65499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:65467800-65494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:65468200-65486800	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:65469800-65481000	Weak transcription	Fetal Lung	lung
12	chr14:65469800-65482200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:65469800-65482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:65470600-65479200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:65470800-65479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:65470800-65484000	Strong transcription	HepG2	liver
18	chr14:65470800-65485400	Strong transcription	Fetal Stomach	stomach
19	chr14:65471000-65494000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:65471200-65486200	Strong transcription	Fetal Intestine Small	intestine
21	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:65471400-65479000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:65471800-65486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:65472400-65480200	Strong transcription	Fetal Thymus	thymus
25	chr14:65472400-65485000	Strong transcription	Fetal Intestine Large	intestine
26	chr14:65472800-65480000	Weak transcription	Pancreas	Pancrea
27	chr14:65472800-65484400	Strong transcription	Primary T cells from cord blood	blood
28	chr14:65473400-65482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:65473400-65482400	Weak transcription	A549	lung
30	chr14:65473400-65482800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:65473400-65486400	Weak transcription	Fetal Kidney	kidney
32	chr14:65473400-65501400	Weak transcription	NHLF	lung
33	chr14:65473600-65482400	Weak transcription	HUVEC	blood vessel
34	chr14:65473800-65479200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:65473800-65479200	Weak transcription	HSMM	muscle
36	chr14:65473800-65513800	Weak transcription	HMEC	breast
37	chr14:65474000-65481200	Strong transcription	Dnd41	blood
38	chr14:65474000-65494200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:65474200-65479200	Weak transcription	Osteobl	bone
40	chr14:65474200-65482400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:65474200-65494400	Weak transcription	NH-A	brain
42	chr14:65474400-65479000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:65474400-65480200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:65474400-65494800	Weak transcription	NHDF-Ad	bronchial
45	chr14:65474600-65485000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:65474800-65484000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:65474800-65486000	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:65475000-65485000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:65475200-65480000	Strong transcription	Placenta	Placenta
50	chr14:65475200-65482800	Weak transcription	H1 Cell Line	embryonic stem cell

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