Variant report

Variant	rs2714459
Chromosome Location	chr7:79758572-79758573
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
2	SPI1	chr7:79758235-79758691	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
GNAI1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10227615	0.82[AFR][1000 genomes]
rs10238400	0.87[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10239304	0.81[EUR][1000 genomes]
rs10266086	0.81[EUR][1000 genomes]
rs10441252	0.98[ASN][1000 genomes]
rs12530713	0.98[ASN][1000 genomes]
rs35706262	0.81[EUR][1000 genomes]
rs4728014	0.86[ASN][1000 genomes]
rs6946088	0.86[EUR][1000 genomes]
rs6949030	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6967162	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6978279	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs722048	0.91[ASN][1000 genomes]
rs73147801	0.89[AFR][1000 genomes];0.81[EUR][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

No data

Chromatin state (count:25 , 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	chr7:79755200-79758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:79755400-79758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:79755600-79758600	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:79756200-79758600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr7:79756800-79758800	Enhancers	Placenta	Placenta
9	chr7:79757400-79761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:79757400-79761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:79757400-79761600	Weak transcription	HMEC	breast
12	chr7:79757600-79758600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr7:79757600-79758800	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:79757600-79763200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:79757600-79763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:79757600-79763400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:79757600-79763600	Weak transcription	Liver	Liver
18	chr7:79757800-79763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:79758000-79758800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:79758000-79763000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:79758200-79758600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr7:79758200-79758600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:79758200-79762800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:79758200-79763200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:79758400-79759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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