Variant report

Variant	rs8007479
Chromosome Location	chr14:69093637-69093638
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68706085..68708969-chr14:69092512..69094170,2	MCF-7	breast:
2	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
3	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
4	chr14:69086671..69090212-chr14:69090936..69094755,4	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131921	0.82[ASN][1000 genomes]
rs10133460	1.00[JPT][hapmap]
rs10143415	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846143	1.00[JPT][hapmap]
rs17106015	0.91[ASN][1000 genomes]
rs17106039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2331779	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877493	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61224239	0.92[ASN][1000 genomes]
rs61987066	0.92[ASN][1000 genomes]
rs61987069	1.00[ASN][1000 genomes]
rs61987070	1.00[ASN][1000 genomes]
rs61987071	1.00[ASN][1000 genomes]
rs61987100	0.91[ASN][1000 genomes]
rs72729562	0.91[ASN][1000 genomes]
rs8009151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8009601	0.96[AFR][1000 genomes]
rs8009865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8011917	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8007479	UPF0639,FLJ44817	cis	frontal cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69085400-69095200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:69086600-69098000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:69087000-69098400	Weak transcription	NHLF	lung
4	chr14:69087200-69095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:69087200-69095000	Weak transcription	Esophagus	oesophagus
6	chr14:69087400-69093800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:69087400-69097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:69088400-69093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:69088400-69093800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:69088800-69093800	Weak transcription	Fetal Intestine Small	intestine
11	chr14:69088800-69093800	Weak transcription	Stomach Mucosa	stomach
12	chr14:69088800-69094000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:69089000-69094000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:69089000-69094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:69089000-69094000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:69089000-69094000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:69089400-69094200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:69090000-69094800	Enhancers	Placenta	Placenta
19	chr14:69090200-69093800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:69090400-69094200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:69090400-69094800	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:69091800-69094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:69091800-69095200	Enhancers	Pancreas	Pancrea
24	chr14:69092000-69093800	Weak transcription	Fetal Thymus	thymus
25	chr14:69092000-69094200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:69092000-69094400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:69092000-69094800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:69092200-69094000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69092200-69107000	Enhancers	Fetal Muscle Leg	muscle
30	chr14:69092400-69094000	Enhancers	Liver	Liver
31	chr14:69092400-69094400	Enhancers	Right Ventricle	heart
32	chr14:69092400-69094600	Enhancers	Left Ventricle	heart
33	chr14:69092400-69101400	Enhancers	Right Atrium	heart
34	chr14:69092600-69093800	Enhancers	Brain Hippocampus Middle	brain
35	chr14:69092600-69093800	Enhancers	Brain Substantia Nigra	brain
36	chr14:69092600-69094400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:69092600-69094800	Enhancers	Fetal Stomach	stomach
38	chr14:69092600-69094800	Weak transcription	Small Intestine	intestine
39	chr14:69092600-69096400	Enhancers	Fetal Heart	heart
40	chr14:69092800-69094000	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:69092800-69094200	Enhancers	Brain Angular Gyrus	brain
42	chr14:69092800-69094400	Enhancers	K562	blood
43	chr14:69092800-69098800	Enhancers	HepG2	liver
44	chr14:69093000-69094000	Enhancers	Brain Anterior Caudate	brain
45	chr14:69093000-69094000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:69093000-69094200	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:69093000-69094200	Enhancers	HSMMtube	muscle
48	chr14:69093000-69094400	Enhancers	Ovary	ovary
49	chr14:69093000-69094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:69093000-69104400	Enhancers	Fetal Lung	lung

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