Variant report

Variant	rs4728014
Chromosome Location	chr7:79758759-79758760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr7:79758407-79758795	HEK293-T-REx	kidney:	n/a	chr7:79758571-79758592

Variant related genes	Relation type
GNAI1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10441252	0.86[ASN][1000 genomes]
rs12530713	0.86[ASN][1000 genomes]
rs2714459	0.86[ASN][1000 genomes]
rs35290068	0.82[EUR][1000 genomes]
rs4731234	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs722048	0.92[ASN][1000 genomes]

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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4728014	GNAI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79754400-79758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:79754400-79762000	Weak transcription	Fetal Thymus	thymus
3	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:79756800-79758800	Enhancers	Placenta	Placenta
5	chr7:79757400-79761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:79757400-79761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:79757400-79761600	Weak transcription	HMEC	breast
8	chr7:79757600-79758800	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:79757600-79763200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:79757600-79763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:79757600-79763400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:79757600-79763600	Weak transcription	Liver	Liver
13	chr7:79757800-79763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:79758000-79758800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:79758000-79763000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:79758200-79762800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:79758200-79763200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:79758400-79759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:79758600-79761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:79758600-79761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:79758600-79763200	Weak transcription	Brain Cingulate Gyrus	brain

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