Variant report

Variant	esv3419223
Chromosome Location	chr7:3684956-3685228
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	GATA3	chr7:3684956-3685008	SH-SY5Y	brain:	n/a	chr7:3684970-3684983

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3681955..3684927-chr7:3685128..3688064,3	K562	blood:

Variant related genes	Relation type
ENSG00000236510	TF binding region
ENSG00000236510	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533026672	chr7:3684969-3684970	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149497503	chr7:3684975-3684976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144737329	chr7:3684991-3684992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139947866	chr7:3684998-3684999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548749039	chr7:3685014-3685015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10245071	chr7:3685015-3685016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537955769	chr7:3685023-3685024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74577769	chr7:3685060-3685061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554089466	chr7:3685074-3685075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577516453	chr7:3685116-3685117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540098383	chr7:3685124-3685125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370781940	chr7:3685125-3685126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371923169	chr7:3685130-3685131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530956809	chr7:3685140-3685141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553623390	chr7:3685197-3685198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3670400-3686600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:3671000-3695600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:3676200-3688600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3676600-3687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:3679400-3686600	Weak transcription	Adipose Nuclei	Adipose
6	chr7:3679800-3690400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:3681200-3695400	Weak transcription	Spleen	Spleen
8	chr7:3682200-3687800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:3682400-3687400	Weak transcription	Fetal Stomach	stomach
10	chr7:3683000-3693000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:3683200-3695600	Weak transcription	Pancreas	Pancrea
12	chr7:3683400-3688400	Weak transcription	Aorta	Aorta
13	chr7:3683400-3693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3683800-3696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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