Variant report

Variant	esv2763938
Chromosome Location	chr6:77417470-77461073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:
2	chr6:77420178..77422936-chr6:77426529..77430097,4	MCF-7	breast:
3	chr6:77418110..77418947-chr6:77570902..77571718,2	MCF-7	breast:

Extended variants
information (count: 1615 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56674833	chr6:77417482-77417483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527364004	chr6:77417487-77417488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6938021	chr6:77417601-77417602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78597180	chr6:77417630-77417631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535797866	chr6:77417666-77417667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554325371	chr6:77417708-77417709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111744368	chr6:77417719-77417720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147941680	chr6:77417752-77417753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140069424	chr6:77417812-77417813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564051806	chr6:77417885-77417886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576463589	chr6:77417905-77417906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543855058	chr6:77417923-77417924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs66875495	chr6:77417930-77417931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183587310	chr6:77417934-77417935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541001422	chr6:77417994-77417995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550093369	chr6:77418010-77418011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533028202	chr6:77418053-77418054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551411407	chr6:77418056-77418057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568220361	chr6:77418085-77418086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6900126	chr6:77418087-77418088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116940533	chr6:77418125-77418126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35457632	chr6:77418155-77418156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566955775	chr6:77418175-77418176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187881069	chr6:77418214-77418215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144336139	chr6:77418253-77418254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554214365	chr6:77418261-77418262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377619900	chr6:77418266-77418267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537166208	chr6:77418271-77418272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373130552	chr6:77418272-77418273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151175169	chr6:77418309-77418310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192355378	chr6:77418331-77418332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73468498	chr6:77418359-77418360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184912741	chr6:77418432-77418433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576633665	chr6:77418450-77418451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543962929	chr6:77418477-77418478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540566275	chr6:77418512-77418513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34183207	chr6:77418539-77418540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397888567	chr6:77418541-77418542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1350405	chr6:77418609-77418610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs12523833	chr6:77418614-77418615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183397701	chr6:77418627-77418628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11963752	chr6:77418643-77418644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199744579	chr6:77418653-77418654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186655200	chr6:77418657-77418658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530503491	chr6:77418658-77418659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548706248	chr6:77418763-77418764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114073667	chr6:77418778-77418779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113009848	chr6:77418779-77418780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150299893	chr6:77418792-77418793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575004411	chr6:77418889-77418890	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77412400-77418400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:77412800-77418600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:77417200-77417600	Enhancers	HUVEC	blood vessel
4	chr6:77417200-77418000	Enhancers	Fetal Heart	heart
5	chr6:77417400-77417600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:77417400-77417600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:77417400-77417600	Enhancers	Ovary	ovary
8	chr6:77417400-77417600	Enhancers	HMEC	breast
9	chr6:77417400-77417600	Enhancers	NHEK	skin
10	chr6:77418400-77419000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:77418600-77418800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:77418600-77419600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:77425600-77433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:77434400-77434600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:77436200-77437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:77443200-77443600	Active TSS	Aorta	Aorta
19	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr6:77454400-77456400	Weak transcription	H1 Cell Line	embryonic stem cell

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