Variant report

Variant	esv3398080
Chromosome Location	chr7:87754844-87755127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87730352..87731942-chr7:87754755..87756598,2	K562	blood:
2	chr7:87754244..87756718-chr7:87757695..87759829,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538966063	chr7:87754860-87754861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539465412	chr7:87754874-87754875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3815258	chr7:87754876-87754877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369129110	chr7:87754889-87754890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150140089	chr7:87754903-87754904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17255978	chr7:87754915-87754916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199793895	chr7:87754947-87754948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201142062	chr7:87754955-87754956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186904476	chr7:87754969-87754970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61753551	chr7:87754974-87754975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539571851	chr7:87754998-87754999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565220456	chr7:87755062-87755063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557723538	chr7:87755071-87755072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138665210	chr7:87755088-87755089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370679140	chr7:87755095-87755096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572081703	chr7:87755125-87755126	Weak transcription	n/a	n/a	Overlapped CNVs	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87741200-87782600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:87743400-87761800	Weak transcription	GM12878-XiMat	blood
3	chr7:87745000-87756600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:87753400-87775200	Weak transcription	Dnd41	blood

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