Variant report

Variant	rs12431919
Chromosome Location	chr14:69139724-69139725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69133832..69136343-chr14:69137612..69140820,3	K562	blood:
2	chr14:69131429..69134144-chr14:69139258..69141880,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12436378	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1274761	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12887682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895574	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17756914	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs194763	1.00[ASW][hapmap]
rs194781	1.00[ASW][hapmap]
rs194782	1.00[ASW][hapmap]
rs34720143	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs440489	1.00[ASW][hapmap]
rs56273152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573854	0.83[AFR][1000 genomes]
rs7147855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957258	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.86[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	esv3392590	chr14:69138099-69142797	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12431919	FUT8	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69129000-69140200	Enhancers	NHDF-Ad	bronchial
3	chr14:69129200-69140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:69129800-69140600	Enhancers	Colon Smooth Muscle	Colon
5	chr14:69130600-69140000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:69130600-69140000	Enhancers	Rectal Smooth Muscle	rectum
7	chr14:69131200-69139800	Enhancers	Fetal Stomach	stomach
8	chr14:69131200-69140600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:69132400-69141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:69133400-69140000	Weak transcription	Primary T cells from cord blood	blood
11	chr14:69133600-69140400	Enhancers	Pancreas	Pancrea
12	chr14:69133600-69141400	Weak transcription	HUVEC	blood vessel
13	chr14:69133800-69140000	Weak transcription	Fetal Brain Male	brain
14	chr14:69133800-69141400	Weak transcription	Aorta	Aorta
15	chr14:69134400-69139800	Enhancers	Right Atrium	heart
16	chr14:69135400-69140000	Enhancers	Adipose Nuclei	Adipose
17	chr14:69136000-69139800	Enhancers	Left Ventricle	heart
18	chr14:69136000-69139800	Enhancers	Right Ventricle	heart
19	chr14:69136200-69141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:69136200-69145800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:69136600-69140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:69136600-69141400	Weak transcription	HMEC	breast
23	chr14:69136600-69141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:69136800-69139800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:69137000-69139800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:69137200-69141800	Weak transcription	NH-A	brain
28	chr14:69137400-69140000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:69137400-69141600	Weak transcription	Osteobl	bone
30	chr14:69137600-69139800	Enhancers	Fetal Intestine Small	intestine
31	chr14:69137600-69140000	Weak transcription	Fetal Lung	lung
32	chr14:69137600-69140400	Enhancers	Liver	Liver
33	chr14:69137800-69140000	Enhancers	Stomach Smooth Muscle	stomach
34	chr14:69137800-69141400	Weak transcription	HSMM	muscle
35	chr14:69137800-69141800	Weak transcription	Esophagus	oesophagus
36	chr14:69137800-69141800	Weak transcription	HSMMtube	muscle
37	chr14:69137800-69148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:69138000-69141600	Weak transcription	Spleen	Spleen
39	chr14:69138200-69141800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:69138200-69144400	Weak transcription	Small Intestine	intestine
41	chr14:69138400-69139800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:69138400-69140000	Enhancers	Primary B cells from peripheral blood	blood
43	chr14:69138400-69141400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:69138400-69141400	Weak transcription	Placenta	Placenta
45	chr14:69138600-69139800	Enhancers	NHLF	lung
46	chr14:69138600-69147800	Weak transcription	Brain Anterior Caudate	brain
47	chr14:69138800-69139800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:69138800-69140200	Weak transcription	Fetal Kidney	kidney
49	chr14:69138800-69147200	Weak transcription	Lung	lung
50	chr14:69139000-69140200	Enhancers	Stomach Mucosa	stomach

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