Variant report

Variant	rs11158750
Chromosome Location	chr14:69006755-69006756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69003922..69007873-chr14:69256897..69260047,3	MCF-7	breast:
2	chr14:69006233..69007064-chr14:69036424..69037353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10131789	0.81[TSI][hapmap]
rs1023530	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12586230	0.80[CEU][hapmap]
rs12882030	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541390	0.81[TSI][hapmap]
rs17105837	1.00[CEU][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2842333	0.90[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs877506	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11158750	FUT8	cis	parietal	SCAN
rs11158750	MAP3K9	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68996200-69007800	Weak transcription	Stomach Mucosa	stomach
2	chr14:69002400-69016600	Weak transcription	Gastric	stomach
3	chr14:69003000-69007800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69003000-69007800	Weak transcription	Hela-S3	cervix
5	chr14:69003000-69008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:69003000-69009000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:69003200-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69003600-69007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:69003600-69008000	Weak transcription	HMEC	breast
10	chr14:69003600-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:69003600-69009000	Weak transcription	NHEK	skin
12	chr14:69004400-69008600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:69004600-69006800	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:69004600-69008400	Enhancers	Brain Germinal Matrix	brain
15	chr14:69004600-69009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:69004600-69010600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69004800-69006800	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:69004800-69006800	Enhancers	Spleen	Spleen
19	chr14:69004800-69007000	Enhancers	Left Ventricle	heart
20	chr14:69004800-69007000	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:69004800-69007400	Enhancers	Psoas Muscle	Psoas
22	chr14:69004800-69008200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:69004800-69008600	Enhancers	Fetal Muscle Leg	muscle
24	chr14:69005000-69007800	Enhancers	Brain Anterior Caudate	brain
25	chr14:69005000-69008400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr14:69005000-69008800	Enhancers	Colon Smooth Muscle	Colon
27	chr14:69005000-69008800	Enhancers	Fetal Stomach	stomach
28	chr14:69005000-69010400	Weak transcription	Pancreas	Pancrea
29	chr14:69005000-69013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:69005000-69015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:69005400-69006800	Enhancers	Brain Substantia Nigra	brain
32	chr14:69005400-69006800	Enhancers	Fetal Lung	lung
33	chr14:69005400-69007200	Enhancers	Right Ventricle	heart
34	chr14:69005400-69008400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:69005600-69006800	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:69005600-69006800	Enhancers	Brain Hippocampus Middle	brain
37	chr14:69005600-69006800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:69005600-69007000	Enhancers	Fetal Kidney	kidney
39	chr14:69005600-69007400	Weak transcription	Fetal Thymus	thymus
40	chr14:69005800-69006800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:69005800-69006800	Enhancers	Brain Angular Gyrus	brain
42	chr14:69005800-69006800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:69005800-69006800	Enhancers	Fetal Brain Male	brain
44	chr14:69005800-69006800	Enhancers	Right Atrium	heart
45	chr14:69005800-69008000	Weak transcription	Adipose Nuclei	Adipose
46	chr14:69006000-69006800	Enhancers	Placenta	Placenta
47	chr14:69006000-69006800	Enhancers	NHLF	lung
48	chr14:69006000-69014600	Enhancers	NHDF-Ad	bronchial
49	chr14:69006200-69006800	Enhancers	HSMMtube	muscle
50	chr14:69006200-69007400	Enhancers	Fetal Heart	heart

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