Variant report

Variant	esv3488438
Chromosome Location	chr7:7593134-7593405
allele	n/a
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	E2F4	chr7:7593005-7593305	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:7592993-7594188	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944 chr7:7593289-7593298
3	FOS	chr7:7592974-7594183	MCF10A-Er-Src	breast:	n/a	chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593935-7593945 chr7:7593936-7593944 chr7:7593289-7593298
4	FOS	chr7:7593003-7593431	MCF10A-Er-Src	breast:	n/a	chr7:7593289-7593298
5	FOS	chr7:7592996-7593442	MCF10A-Er-Src	breast:	n/a	chr7:7593289-7593298
6	GATA3	chr7:7593273-7593315	SH-SY5Y	brain:	n/a	n/a
7	KAP1	chr7:7593215-7595132	HEK293	kidney:	n/a	n/a
8	MAFK	chr7:7593260-7593313	HepG2	liver:	n/a	n/a
9	MYC	chr7:7593053-7593389	MCF10A-Er-Src	breast:	n/a	n/a
10	NR3C1	chr7:7593063-7593373	A549	lung:	n/a	chr7:7593227-7593243 chr7:7593225-7593246 chr7:7593228-7593242 chr7:7593227-7593243 chr7:7593227-7593243 chr7:7593227-7593243
11	NR3C1	chr7:7593023-7593328	A549	lung:	n/a	chr7:7593227-7593243 chr7:7593225-7593246 chr7:7593228-7593242 chr7:7593227-7593243 chr7:7593227-7593243 chr7:7593227-7593243
12	POLR2A	chr7:7592699-7594139	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:7592858-7594124	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr7:7592801-7593448	MCF10A-Er-Src	breast:	n/a	chr7:7592910-7592933 chr7:7592914-7592921
15	STAT3	chr7:7592990-7593410	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr7:7592988-7594187	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003
17	STAT3	chr7:7592945-7594529	MCF10A-Er-Src	breast:	n/a	chr7:7593995-7594003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272732	TF binding region
ENSG00000164654	chromatin interactions
ENSG00000272894	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184941780	chr7:7593138-7593139	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs12334276	chr7:7593159-7593160	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535727429	chr7:7593195-7593196	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528221495	chr7:7593205-7593206	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530440291	chr7:7593222-7593223	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs578058076	chr7:7593223-7593224	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs7791080	chr7:7593229-7593230	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375455304	chr7:7593234-7593235	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs546717802	chr7:7593237-7593238	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560829553	chr7:7593248-7593249	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs547819041	chr7:7593254-7593255	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553852446	chr7:7593255-7593256	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149361011	chr7:7593262-7593263	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539024760	chr7:7593276-7593277	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374083252	chr7:7593277-7593278	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557835669	chr7:7593325-7593326	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs7782178	chr7:7593333-7593334	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144669376	chr7:7593357-7593358	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs186745356	chr7:7593358-7593359	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs569103190	chr7:7593381-7593382	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7581800-7595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:7589400-7605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:7589800-7596000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:7589800-7596000	Weak transcription	Aorta	Aorta
5	chr7:7589800-7596000	Weak transcription	Placenta	Placenta
6	chr7:7589800-7596600	Weak transcription	Gastric	stomach
7	chr7:7590000-7593600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:7590000-7595000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:7590000-7606000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:7590000-7606200	Weak transcription	Ovary	ovary
11	chr7:7590200-7605800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:7590200-7605800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:7591800-7593600	Weak transcription	Pancreas	Pancrea
14	chr7:7591800-7594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:7592000-7593200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:7592000-7593800	Weak transcription	Liver	Liver
17	chr7:7592000-7594200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:7592000-7596400	Weak transcription	Lung	lung
19	chr7:7592200-7594600	Enhancers	HSMM	muscle
20	chr7:7592400-7593400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:7592400-7599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:7592600-7593400	Enhancers	Osteobl	bone
23	chr7:7592600-7594400	Weak transcription	Psoas Muscle	Psoas
24	chr7:7592800-7593800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:7593000-7593200	Enhancers	NHDF-Ad	bronchial
26	chr7:7593000-7593600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:7593000-7593600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:7593000-7594600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:7593200-7593400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:7593200-7593400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr7:7593200-7594000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:7593200-7594200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:7593200-7594600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:7593200-7594600	Enhancers	NH-A	brain
35	chr7:7593400-7593600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:7593400-7593600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:7593400-7593600	Enhancers	NHDF-Ad	bronchial
38	chr7:7593400-7593800	Flanking Active TSS	Osteobl	bone
39	chr7:7593400-7594000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:7593400-7594000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:7593400-7594600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:7593400-7594600	Enhancers	HSMMtube	muscle

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