Variant report

Variant	rs768750
Chromosome Location	chr14:32947946-32947947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32941433..32942936-chr14:32946433..32948525,2	MCF-7	breast:
2	chr14:32943721..32945692-chr14:32947594..32949862,2	MCF-7	breast:
3	chr14:32947699..32950524-chr14:32951801..32954077,2	K562	blood:

Variant related genes	Relation type
ENSG00000259045	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10872864	0.84[EUR][1000 genomes]
rs10872865	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs10872866	0.91[JPT][hapmap]

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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs768750	AKAP6	cis	parietal	SCAN
rs768750	HECTD1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32943200-32950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:32944200-32948000	Enhancers	Brain Hippocampus Middle	brain
3	chr14:32945400-32948200	Enhancers	Brain Substantia Nigra	brain
4	chr14:32945600-32948000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:32945600-32948000	Enhancers	Colon Smooth Muscle	Colon
6	chr14:32945600-32948200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:32945800-32948200	Enhancers	Brain Angular Gyrus	brain
8	chr14:32945800-32950200	Enhancers	NHDF-Ad	bronchial
9	chr14:32946200-32948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:32946400-32948000	Enhancers	Aorta	Aorta
11	chr14:32946400-32948200	Enhancers	NHEK	skin
12	chr14:32946600-32948400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:32946600-32948400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:32946800-32948000	Enhancers	HMEC	breast
15	chr14:32946800-32951200	Weak transcription	Right Ventricle	heart
16	chr14:32947000-32948000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:32947000-32948000	Enhancers	NHLF	lung
18	chr14:32947000-32948200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:32947000-32948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:32947000-32948200	Enhancers	HSMMtube	muscle
21	chr14:32947200-32948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:32947200-32948200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:32947200-32948200	Enhancers	Osteobl	bone
24	chr14:32947400-32948400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:32947600-32949000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:32947600-32949200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:32947600-32949400	Weak transcription	HSMM	muscle
28	chr14:32947600-32949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:32947600-32950600	Weak transcription	Left Ventricle	heart
30	chr14:32947600-32951400	Weak transcription	Fetal Heart	heart
31	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:32947800-32949000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:32947800-32949200	Weak transcription	Brain Anterior Caudate	brain
34	chr14:32947800-32951000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:32947800-32960600	Weak transcription	Fetal Brain Male	brain
36	chr14:32947800-32963400	Weak transcription	Right Atrium	heart

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