Variant report

Variant	rs73378676
Chromosome Location	chr7:79812142-79812143
allele	A/C
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	TCF12	chr7:79812011-79812717	SK-N-SH	brain:	n/a	n/a
2	USF1	chr7:79811948-79812252	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFIC	chr7:79812086-79812736	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr7:79812137-79812606	A549	lung:	n/a	n/a
5	GATA3	chr7:79812044-79812715	SK-N-SH	brain:	n/a	n/a
6	POU5F1	chr7:79812052-79812420	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr7:79812012-79812733	SK-N-SH	brain:	n/a	n/a
8	SP1	chr7:79812082-79812627	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr7:79811972-79812415	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:79812108-79812489	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr7:79812052-79812567	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
GNAI1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17153514	0.90[AFR][1000 genomes]
rs17153546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378647	0.90[AFR][1000 genomes]
rs73378654	0.90[AFR][1000 genomes]
rs73378656	0.90[AFR][1000 genomes]
rs73378659	0.95[AFR][1000 genomes]
rs73378663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73378694	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:79802400-79813200	Weak transcription	Placenta	Placenta
6	chr7:79802600-79820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:79803200-79812200	Weak transcription	Ovary	ovary
8	chr7:79804800-79813200	Weak transcription	Left Ventricle	heart
9	chr7:79806000-79816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:79806800-79814800	Enhancers	Brain Substantia Nigra	brain
11	chr7:79807200-79813200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:79807200-79829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:79807400-79812800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:79807600-79816200	Weak transcription	Osteobl	bone
16	chr7:79807800-79816000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:79808600-79813800	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:79809400-79815600	Weak transcription	Liver	Liver
20	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
21	chr7:79809800-79815400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:79810000-79812400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:79810000-79813200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:79810000-79814800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:79810000-79815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:79810200-79813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:79810200-79813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:79810200-79814000	Weak transcription	Fetal Kidney	kidney
29	chr7:79810200-79816000	Weak transcription	Fetal Brain Female	brain
30	chr7:79810400-79812800	Weak transcription	Adipose Nuclei	Adipose
31	chr7:79810400-79813000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:79810400-79813200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:79810400-79818400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:79810600-79815400	Weak transcription	Right Atrium	heart
35	chr7:79810800-79815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:79811000-79812600	Enhancers	Brain Angular Gyrus	brain
37	chr7:79811000-79813200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:79811000-79816000	Weak transcription	Gastric	stomach
39	chr7:79811000-79817200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:79811400-79812600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:79811600-79812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
43	chr7:79811800-79812400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:79811800-79813000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:79812000-79812200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:79812000-79812400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:79812000-79812400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:79812000-79812400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:79812000-79812400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr7:79812000-79812400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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