Variant report

Variant	rs73147497
Chromosome Location	chr7:79081115-79081116
allele	A/G
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	POLR2A	chr7:79081015-79084420	IMR90	lung:	n/a	n/a
2	MAFF	chr7:79080999-79081652	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:79081011-79081880	HepG2	liver:	n/a	n/a
4	MYC	chr7:79081043-79082245	A549	lung:	n/a	n/a
5	MAX	chr7:79081105-79082266	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr7:79081054-79081819	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:79080110-79083757	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr7:79080975-79083910	HepG2	liver:	n/a	n/a
9	RFX5	chr7:79081007-79081731	HepG2	liver:	n/a	n/a
10	MAX	chr7:79081101-79082514	HepG2	liver:	n/a	n/a
11	MXI1	chr7:79080042-79084898	SK-N-SH	brain:	n/a	n/a
12	KAP1	chr7:79080948-79082051	HEK293	kidney:	n/a	n/a
13	CHD1	chr7:79080270-79084340	IMR90	lung:	n/a	chr7:79081620-79081630
14	MXI1	chr7:79080860-79084788	IMR90	lung:	n/a	n/a
15	POLR2A	chr7:79080305-79084335	PFSK-1	brain:	n/a	n/a
16	SIN3AK20	chr7:79080935-79081245	PFSK-1	brain:	n/a	n/a
17	TAF1	chr7:79081102-79082247	PFSK-1	brain:	n/a	n/a
18	MAZ	chr7:79080885-79084852	IMR90	lung:	n/a	chr7:79083803-79083813
19	MAFK	chr7:79081006-79081311	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:79081100-79083930	PANC-1	pancreas:	n/a	n/a
21	HEY1	chr7:79081076-79083609	HepG2	liver:	n/a	chr7:79083192-79083207 chr7:79083183-79083198
22	ZNF263	chr7:79081100-79085959	HEK293-T-REx	kidney:	n/a	chr7:79083163-79083172 chr7:79081619-79081628 chr7:79085459-79085468 chr7:79083175-79083184 chr7:79083164-79083185 chr7:79082994-79083003 chr7:79081426-79081435
23	MAX	chr7:79081112-79082299	A549	lung:	n/a	n/a
24	ARID3A	chr7:79080953-79082067	HepG2	liver:	n/a	n/a
25	MXI1	chr7:79081004-79083761	HepG2	liver:	n/a	n/a
26	CREB1	chr7:79080969-79082570	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MAGI2-AS3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10250567	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252494	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272831	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154329	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155310	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12535271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535485	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540890	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17152518	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715946	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951151	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79079800-79084600	Active TSS	NHLF	lung
2	chr7:79080200-79084000	Active TSS	Brain Anterior Caudate	brain
3	chr7:79080400-79084400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:79080400-79084600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:79080600-79081200	Flanking Active TSS	Osteobl	bone
6	chr7:79080600-79084200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:79080600-79084400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:79080800-79081200	Flanking Active TSS	NHEK	skin
9	chr7:79080800-79081400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:79080800-79081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:79080800-79081400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr7:79080800-79081400	Flanking Active TSS	Liver	Liver
13	chr7:79080800-79081600	Active TSS	HMEC	breast
14	chr7:79080800-79082200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:79080800-79082400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:79080800-79083000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:79080800-79084000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:79080800-79084000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:79080800-79084400	Active TSS	Brain Hippocampus Middle	brain
20	chr7:79080800-79084400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:79080800-79084600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:79080800-79084600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:79080800-79084600	Active TSS	NHDF-Ad	bronchial
24	chr7:79081000-79081200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
25	chr7:79081000-79081200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:79081000-79081200	Bivalent Enhancer	Primary T cells from cord blood	blood
27	chr7:79081000-79081200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr7:79081000-79081200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr7:79081000-79081200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr7:79081000-79081200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr7:79081000-79081200	Flanking Active TSS	Fetal Brain Female	brain
32	chr7:79081000-79081200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr7:79081000-79081200	Flanking Active TSS	Fetal Lung	lung
34	chr7:79081000-79081200	Enhancers	Fetal Muscle Leg	muscle
35	chr7:79081000-79081200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr7:79081000-79081400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr7:79081000-79081400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr7:79081000-79081400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr7:79081000-79081400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr7:79081000-79081400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:79081000-79081400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr7:79081000-79081400	Active TSS	Brain Germinal Matrix	brain
43	chr7:79081000-79081400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:79081000-79081400	Active TSS	Fetal Brain Male	brain
45	chr7:79081000-79081400	Flanking Active TSS	Fetal Heart	heart
46	chr7:79081000-79081400	Flanking Active TSS	Fetal Kidney	kidney
47	chr7:79081000-79081400	Active TSS	Placenta	Placenta
48	chr7:79081000-79081400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:79081000-79081400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:79081000-79081400	Bivalent/Poised TSS	Thymus	Thymus

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