Variant report

Variant	esv3399846
Chromosome Location	chr6:142638284-142640832
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	chr6:142626704..142628828-chr6:142640591..142642152,2	MCF-7	breast:
2	chr6:142638506..142640750-chr6:142643071..142645808,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147810850	chr6:142638303-142638304	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149189817	chr6:142638315-142638316	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536052834	chr6:142638330-142638331	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143315993	chr6:142638342-142638343	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569930178	chr6:142638387-142638388	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536973596	chr6:142638494-142638495	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556505180	chr6:142638518-142638519	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181809670	chr6:142638572-142638573	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539107258	chr6:142638615-142638616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73578320	chr6:142638644-142638645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188725033	chr6:142638695-142638696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180692571	chr6:142638703-142638704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185307290	chr6:142638731-142638732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541626012	chr6:142638741-142638742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561847773	chr6:142638766-142638767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543778122	chr6:142638774-142638775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564872398	chr6:142638777-142638778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531985903	chr6:142638787-142638788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199811672	chr6:142638856-142638857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371008274	chr6:142638857-142638858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78251886	chr6:142638872-142638873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77650622	chr6:142638874-142638875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575264397	chr6:142638924-142638925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540081373	chr6:142638927-142638928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547050372	chr6:142638932-142638933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56137983	chr6:142639123-142639124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563342391	chr6:142639141-142639142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56177614	chr6:142639144-142639145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182286881	chr6:142639150-142639151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56297453	chr6:142639152-142639153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55812712	chr6:142639156-142639157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187298041	chr6:142639183-142639184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374059991	chr6:142639200-142639201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377627507	chr6:142639216-142639217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111218846	chr6:142639219-142639220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369320643	chr6:142639230-142639231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372840227	chr6:142639231-142639232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373422306	chr6:142639240-142639241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376488092	chr6:142639246-142639247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370534507	chr6:142639248-142639249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373279882	chr6:142639257-142639258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377323719	chr6:142639285-142639286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371325647	chr6:142639287-142639288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375964622	chr6:142639292-142639293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368350010	chr6:142639316-142639317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370794919	chr6:142639324-142639325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377090266	chr6:142639338-142639339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374949035	chr6:142639354-142639355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370054778	chr6:142639362-142639363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373945289	chr6:142639370-142639371	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
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
Burkitt''s lymphoma	19759907	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142624800-142651800	Weak transcription	HSMM	muscle
2	chr6:142626000-142650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:142626600-142639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:142632400-142644200	Weak transcription	HMEC	breast
5	chr6:142633200-142651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142634800-142640200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:142634800-142641400	Weak transcription	Fetal Lung	lung
8	chr6:142634800-142641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:142634800-142646400	Weak transcription	HUVEC	blood vessel
10	chr6:142635000-142651000	Weak transcription	NHEK	skin
11	chr6:142635600-142640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:142635800-142640800	Weak transcription	NHLF	lung
13	chr6:142636200-142639600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:142637200-142638600	Genic enhancers	HepG2	liver
15	chr6:142637800-142638600	Enhancers	Liver	Liver
16	chr6:142638000-142638400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:142638200-142638400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:142638200-142638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:142638200-142638400	Enhancers	Stomach Mucosa	stomach
20	chr6:142638200-142638400	Flanking Active TSS	A549	lung
21	chr6:142638200-142638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:142638400-142638800	Enhancers	A549	lung
23	chr6:142638400-142639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:142638600-142639600	Weak transcription	HepG2	liver
25	chr6:142638600-142639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:142638600-142639800	Weak transcription	Liver	Liver
27	chr6:142638800-142639600	Weak transcription	A549	lung
28	chr6:142639600-142639800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:142639600-142639800	Enhancers	A549	lung
30	chr6:142639600-142640600	Genic enhancers	HepG2	liver
31	chr6:142639800-142640200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:142639800-142640200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:142639800-142640200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:142639800-142640200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:142639800-142640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:142639800-142640600	Enhancers	Liver	Liver
37	chr6:142639800-142641200	Flanking Active TSS	A549	lung
38	chr6:142640000-142640200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:142640000-142641600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:142640200-142640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:142640200-142640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:142640200-142640400	Enhancers	Fetal Heart	heart
43	chr6:142640200-142644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:142640200-142644600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:142640400-142641200	Weak transcription	Fetal Heart	heart
46	chr6:142640400-142649800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:142640400-142652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:142640600-142643000	Weak transcription	HepG2	liver
49	chr6:142640600-142643200	Weak transcription	Liver	Liver
50	chr6:142640600-142651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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