Variant report

Variant	rs1077718
Chromosome Location	chr3:134080661-134080662
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	chr3:134079471..134081511-chr3:134198648..134200784,2	MCF-7	breast:
2	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12317	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1366065	1.00[JPT][hapmap]
rs2400275	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1077718	A4GNT	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134069200-134090000	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr3:134069400-134089800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr3:134070000-134082400	Genic enhancers	Right Ventricle	heart
4	chr3:134070400-134088200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:134071000-134082600	Genic enhancers	NHLF	lung
6	chr3:134071000-134088800	Enhancers	Right Atrium	heart
7	chr3:134071200-134082400	Genic enhancers	Brain Substantia Nigra	brain
8	chr3:134071600-134082200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:134071600-134082800	Genic enhancers	Placenta	Placenta
10	chr3:134072000-134082800	Genic enhancers	Lung	lung
11	chr3:134072200-134082400	Genic enhancers	Brain Hippocampus Middle	brain
12	chr3:134072200-134090200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:134072400-134091200	Genic enhancers	Spleen	Spleen
14	chr3:134072600-134082000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:134072600-134082200	Genic enhancers	Adipose Nuclei	Adipose
16	chr3:134072800-134081000	Genic enhancers	Placenta Amnion	Placenta Amnion
17	chr3:134072800-134082400	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr3:134072800-134082600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:134072800-134090600	Genic enhancers	Left Ventricle	heart
20	chr3:134073000-134082200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:134073000-134089400	Genic enhancers	HMEC	breast
22	chr3:134073200-134082000	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr3:134073200-134082200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:134073400-134082200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:134073400-134091400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:134073800-134082400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:134074400-134082600	Genic enhancers	Brain Anterior Caudate	brain
28	chr3:134074400-134089400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:134075000-134090400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:134075200-134081000	Genic enhancers	Gastric	stomach
31	chr3:134075200-134082200	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:134075200-134082400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:134075200-134082800	Genic enhancers	Brain Angular Gyrus	brain
34	chr3:134075600-134082200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:134075800-134082200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:134075800-134082400	Genic enhancers	HSMMtube	muscle
37	chr3:134075800-134082600	Genic enhancers	Rectal Smooth Muscle	rectum
38	chr3:134076000-134081000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:134076800-134082200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:134076800-134082200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:134076800-134082400	Genic enhancers	HSMM	muscle
42	chr3:134076800-134082600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:134076800-134088600	Genic enhancers	NHDF-Ad	bronchial
44	chr3:134077000-134081400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:134077400-134081400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:134077400-134081800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:134077400-134082000	Weak transcription	Dnd41	blood
48	chr3:134077400-134082200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:134077400-134082200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:134077400-134082400	Genic enhancers	Muscle Satellite Cultured Cells	--

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