Variant report

Variant	esv3449206
Chromosome Location	chr6:153748343-153748896
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	chr6:153747500..153749938-chr6:153764561..153767093,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568041390	chr6:153748349-153748350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77754838	chr6:153748352-153748353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577255457	chr6:153748388-153748389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538296843	chr6:153748389-153748390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144089241	chr6:153748409-153748410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561807104	chr6:153748421-153748422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374277026	chr6:153748455-153748456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148662404	chr6:153748479-153748480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186211314	chr6:153748503-153748504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371628314	chr6:153748553-153748554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199691399	chr6:153748616-153748617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572823998	chr6:153748617-153748618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73014463	chr6:153748647-153748648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73014465	chr6:153748649-153748650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73014466	chr6:153748688-153748689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368434853	chr6:153748700-153748701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6933283	chr6:153748712-153748713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201572703	chr6:153748776-153748777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146742574	chr6:153748777-153748778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200048348	chr6:153748780-153748781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200663458	chr6:153748781-153748782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191069610	chr6:153748787-153748788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139760682	chr6:153748805-153748806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371913278	chr6:153748806-153748807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368188860	chr6:153748808-153748809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550625460	chr6:153748835-153748836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73014467	chr6:153748845-153748846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562461166	chr6:153748875-153748876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371140802	chr6:153748885-153748886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153746600-153748800	Enhancers	HMEC	breast
2	chr6:153747800-153748800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:153748800-153756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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