Variant report

Variant	rs12895574
Chromosome Location	chr14:69143619-69143620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69142189..69144606-chr14:69257532..69259635,3	MCF-7	breast:
2	chr14:69143328..69145505-chr14:69159478..69161239,2	MCF-7	breast:
3	chr14:69134172..69139010-chr14:69141375..69149578,10	MCF-7	breast:
4	chr14:69143361..69145992-chr14:69259483..69261173,2	MCF-7	breast:
5	chr14:69142355..69144666-chr14:69256973..69259455,3	MCF-7	breast:
6	chr14:69141367..69143864-chr14:69145141..69147073,2	MCF-7	breast:
7	chr14:68683371..68686097-chr14:69141858..69143811,2	MCF-7	breast:
8	chr14:69142992..69145635-chr14:69147389..69151397,3	MCF-7	breast:
9	chr14:68978260..68979920-chr14:69142414..69145003,2	MCF-7	breast:
10	chr14:69142746..69145365-chr14:69149746..69153612,4	MCF-7	breast:
11	chr14:69135606..69138335-chr14:69141741..69144459,2	K562	blood:
12	chr14:69140612..69143897-chr14:69144932..69147672,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000258623	Chromatin interaction
ENSG00000242941	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12431919	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436378	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1274761	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs12887682	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896428	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12898061	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17756914	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs34720143	0.81[EUR][1000 genomes]
rs56273152	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147855	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs957258	0.84[CEU][hapmap];0.83[MEX][hapmap];0.81[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	nsv1329	chr14:69142476-69176987	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	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
rs12895574	FUT8	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69136200-69145800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69137800-69148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69138200-69144400	Weak transcription	Small Intestine	intestine
5	chr14:69138600-69147800	Weak transcription	Brain Anterior Caudate	brain
6	chr14:69138800-69147200	Weak transcription	Lung	lung
7	chr14:69139200-69150000	Weak transcription	Thymus	Thymus
8	chr14:69139800-69144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:69139800-69144400	Weak transcription	Left Ventricle	heart
10	chr14:69139800-69144400	Weak transcription	Right Atrium	heart
11	chr14:69140000-69143800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:69140000-69147200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:69140400-69144600	Weak transcription	Right Ventricle	heart
14	chr14:69140400-69145800	Weak transcription	Liver	Liver
15	chr14:69140600-69146400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:69140600-69147400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:69140800-69146200	Weak transcription	Fetal Lung	lung
18	chr14:69141000-69145400	Weak transcription	Fetal Kidney	kidney
19	chr14:69141400-69144400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69141400-69145400	Enhancers	HMEC	breast
21	chr14:69141400-69146200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:69141400-69146800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:69141400-69147000	Enhancers	Fetal Intestine Small	intestine
24	chr14:69141400-69153800	Enhancers	Fetal Intestine Large	intestine
25	chr14:69141400-69156800	Enhancers	Placenta	Placenta
26	chr14:69141600-69145200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:69141600-69145600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:69141800-69145000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:69141800-69145800	Enhancers	Fetal Thymus	thymus
30	chr14:69142000-69144400	Weak transcription	Pancreas	Pancrea
31	chr14:69142000-69148000	Weak transcription	Spleen	Spleen
32	chr14:69142200-69147200	Weak transcription	NHLF	lung
33	chr14:69142200-69150000	Weak transcription	Aorta	Aorta
34	chr14:69142400-69143800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:69142400-69146400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:69142400-69147200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:69142400-69147200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:69142400-69147200	Weak transcription	Osteobl	bone
39	chr14:69142600-69145600	Enhancers	Fetal Heart	heart
40	chr14:69142600-69146000	Weak transcription	Hela-S3	cervix
41	chr14:69142600-69147400	Weak transcription	HSMM	muscle
42	chr14:69142800-69144200	Enhancers	Fetal Stomach	stomach
43	chr14:69142800-69146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:69143000-69143800	Enhancers	Fetal Muscle Leg	muscle
45	chr14:69143000-69144600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:69143000-69144800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69143000-69146600	Enhancers	Duodenum Mucosa	Duodenum
48	chr14:69143000-69146600	Enhancers	Stomach Mucosa	stomach
49	chr14:69143000-69146800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:69143000-69148000	Weak transcription	HUVEC	blood vessel

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