Variant report

Variant	esv2520305
Chromosome Location	chr6:77279731-77281123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188345250	chr6:77279738-77279739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576104287	chr6:77279770-77279771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12202087	chr6:77279858-77279859	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556777019	chr6:77279863-77279864	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574835769	chr6:77279870-77279871	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192832376	chr6:77279930-77279931	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184672816	chr6:77279952-77279953	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540929765	chr6:77280007-77280008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9361083	chr6:77280008-77280009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147626686	chr6:77280023-77280024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551580848	chr6:77280035-77280036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371261447	chr6:77280044-77280045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189385033	chr6:77280055-77280056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113158905	chr6:77280104-77280105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374637789	chr6:77280114-77280115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55892849	chr6:77280115-77280116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567103561	chr6:77280142-77280143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534618487	chr6:77280203-77280204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117402361	chr6:77280257-77280258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566027009	chr6:77280259-77280260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539769449	chr6:77280342-77280343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545458790	chr6:77280379-77280380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76913289	chr6:77280396-77280397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118179760	chr6:77280403-77280404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4441926	chr6:77280443-77280444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555841748	chr6:77280493-77280494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183749268	chr6:77280528-77280529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375121868	chr6:77280557-77280558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563611386	chr6:77280559-77280560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541414997	chr6:77280560-77280561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370078824	chr6:77280613-77280614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58289412	chr6:77280641-77280642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533249467	chr6:77280647-77280648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374770845	chr6:77280682-77280683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543090186	chr6:77280761-77280762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148316563	chr6:77280772-77280773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180924440	chr6:77280781-77280782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548761547	chr6:77280795-77280796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567342557	chr6:77280816-77280817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372133537	chr6:77280867-77280868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528218852	chr6:77280912-77280913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562011654	chr6:77280956-77280957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546164355	chr6:77281017-77281018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141427604	chr6:77281109-77281110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79437427	chr6:77281116-77281117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4404743	chr6:77281122-77281123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77274400-77284600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:77277000-77279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:77277200-77280200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:77277200-77284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:77277600-77282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:77277600-77284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:77277600-77284400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:77278400-77280600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:77278400-77284200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:77278600-77282400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:77279800-77280000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:77280000-77280200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:77280200-77280800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:77280200-77283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:77280600-77280800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:77280800-77281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:77280800-77281400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:77281000-77282000	Enhancers	HUES48 Cell Line	embryonic stem cell

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