Variant report

Variant	esv3376524
Chromosome Location	chr6:142344241-142344419
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	chr6:142342024..142345729-chr6:142348880..142352239,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4569984	chr6:142344250-142344251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11155232	chr6:142344257-142344258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368139162	chr6:142344295-142344296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565882354	chr6:142344321-142344322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549393100	chr6:142344331-142344332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550809883	chr6:142344366-142344367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561262920	chr6:142344374-142344375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142335600-142351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:142336800-142346600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:142336800-142349200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:142338800-142346400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:142338800-142347200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:142343000-142344400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:142343200-142347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:142343600-142345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:142343600-142345600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:142343600-142346800	Weak transcription	K562	blood
11	chr6:142344200-142344600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr6:142344200-142344600	Weak transcription	NHEK	skin
13	chr6:142344200-142345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:142344400-142344800	Enhancers	HSMM	muscle
15	chr6:142344400-142345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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