Variant report

Variant	esv3363965
Chromosome Location	chr6:150518641-150518898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150512430..150515646-chr6:150516901..150519316,3	K562	blood:
2	chr6:150510588..150515411-chr6:150515857..150521257,7	MCF-7	breast:
3	chr6:150518298..150521152-chr6:150523437..150526060,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 88 )

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	rs191274746	chr6:150518647-150518648	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541844771	chr6:150518662-150518663	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562012356	chr6:150518674-150518675	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184136778	chr6:150518675-150518676	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550889817	chr6:150518696-150518697	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550065903	chr6:150518701-150518702	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375201930	chr6:150518734-150518735	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35346601	chr6:150518738-150518739	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186953884	chr6:150518739-150518740	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114234224	chr6:150518802-150518803	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111689577	chr6:150518811-150518812	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371157017	chr6:150518839-150518840	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111299284	chr6:150518848-150518849	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56235233	chr6:150518851-150518852	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13193120	chr6:150518857-150518858	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546624812	chr6:150518864-150518865	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs55865114	chr6:150518886-150518887	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9371812	chr6:150518896-150518897	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150499600-150519600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:150514800-150524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:150515400-150519600	Weak transcription	Fetal Brain Male	brain
4	chr6:150516400-150519000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:150516800-150518800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:150516800-150518800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:150516800-150518800	Enhancers	Fetal Intestine Large	intestine
8	chr6:150516800-150518800	Enhancers	Fetal Intestine Small	intestine
9	chr6:150516800-150518800	Enhancers	Fetal Muscle Leg	muscle
10	chr6:150517000-150519000	Enhancers	Colonic Mucosa	Colon
11	chr6:150517400-150519000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:150517400-150519800	Weak transcription	K562	blood
13	chr6:150517600-150529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:150518000-150522200	Enhancers	Left Ventricle	heart
15	chr6:150518200-150520000	Enhancers	Right Atrium	heart
16	chr6:150518200-150520800	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:150518200-150523000	Weak transcription	Stomach Mucosa	stomach
18	chr6:150518200-150530800	Enhancers	Fetal Heart	heart
19	chr6:150518400-150518800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:150518400-150518800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:150518400-150521400	Weak transcription	Esophagus	oesophagus
22	chr6:150518600-150518800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:150518600-150519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:150518600-150519800	Weak transcription	Fetal Brain Female	brain
25	chr6:150518600-150519800	Weak transcription	Right Ventricle	heart
26	chr6:150518600-150520000	Weak transcription	Psoas Muscle	Psoas
27	chr6:150518600-150520000	Weak transcription	NHEK	skin
28	chr6:150518600-150521400	Weak transcription	HMEC	breast
29	chr6:150518600-150521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:150518600-150522400	Weak transcription	Pancreas	Pancrea
31	chr6:150518600-150523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:150518600-150523200	Weak transcription	Lung	lung
33	chr6:150518800-150519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:150518800-150519800	Weak transcription	Fetal Intestine Large	intestine
35	chr6:150518800-150520200	Weak transcription	Fetal Intestine Small	intestine
36	chr6:150518800-150520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:150518800-150521400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:150518800-150521600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:150518800-150521600	Weak transcription	Rectal Mucosa Donor 29	rectum

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