Variant report

Variant	esv3418799
Chromosome Location	chr7:80890879-80891322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80544766..80552951-chr7:80883361..80891908,25	MCF-7	breast:
2	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:
3	chr7:80570593..80572425-chr7:80891070..80893761,2	MCF-7	breast:
4	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
5	chr7:80545653..80550046-chr7:80890283..80894244,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77316147	chr7:80890917-80890918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542617806	chr7:80890933-80890934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs161838	chr7:80890938-80890939	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10271152	chr7:80890960-80890961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182720775	chr7:80890961-80890962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553135968	chr7:80890979-80890980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187055157	chr7:80891044-80891045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376164468	chr7:80891046-80891047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191692270	chr7:80891048-80891049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560648973	chr7:80891060-80891061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371045737	chr7:80891123-80891124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145974688	chr7:80891139-80891140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549360106	chr7:80891140-80891141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60496738	chr7:80891153-80891154	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139884695	chr7:80891184-80891185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551687911	chr7:80891238-80891239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571480015	chr7:80891240-80891241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59748947	chr7:80891256-80891257	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80870800-80893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80886600-80903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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