Variant report

Variant	esv1828437
Chromosome Location	chr6:65098768-65155219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65105555..65108214-chr6:65112608..65114216,2	K562	blood:
2	chr6:65090547..65093920-chr6:65096939..65100016,3	MCF-7	breast:
3	chr6:65105555..65108214-chr6:65112608..65114216,2	K562	blood:
4	chr6:65126062..65128864-chr6:65133526..65135852,2	MCF-7	breast:
5	chr6:65126062..65128864-chr6:65133526..65135852,2	MCF-7	breast:
6	chr10:122595797..122596436-chr6:65107139..65107964,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF3-10	chr6:65147436-65147564	NONHSAT113362
2	lnc-PHF3-2	chr6:65122529-65122672	ENSG00000232120.1
3	lnc-PHF3-2	chr6:65110209-65110322	ENSG00000232120.1
4	lnc-PHF3-10	chr6:65145647-65145784	NONHSAT113362

No data

Extended variants
information (count: 321 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560606626	chr6:65112436-65112437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560259651	chr6:65112471-65112472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527743293	chr6:65112480-65112481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543043934	chr6:65112486-65112487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386702044	chr6:65112557-65112558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs956458	chr6:65112558-65112559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567126648	chr6:65112562-65112563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571429585	chr6:65112580-65112581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs33999835	chr6:65112586-65112587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143935455	chr6:65120416-65120417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559993172	chr6:65120432-65120433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148224567	chr6:65120471-65120472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185256489	chr6:65120495-65120496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141488861	chr6:65120499-65120500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190106996	chr6:65120527-65120528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545775462	chr6:65120529-65120530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9351246	chr6:65120557-65120558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557587493	chr6:65120610-65120611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535012021	chr6:65120620-65120621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146183924	chr6:65120623-65120624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116352975	chr6:65120625-65120626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140179170	chr6:65120644-65120645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557167419	chr6:65120748-65120749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575429328	chr6:65120757-65120758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377512421	chr6:65120819-65120820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531642092	chr6:65120839-65120840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542122642	chr6:65120848-65120849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192774954	chr6:65120873-65120874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563488275	chr6:65120879-65120880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564148190	chr6:65120927-65120928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530771502	chr6:65120931-65120932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184808121	chr6:65120944-65120945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7763168	chr6:65120963-65120964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549478275	chr6:65120972-65120973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4286758	chr6:65121000-65121001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114846147	chr6:65121047-65121048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530390268	chr6:65121101-65121102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62418117	chr6:65121113-65121114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548389051	chr6:65121116-65121117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563574481	chr6:65121151-65121152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36009422	chr6:65121177-65121178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546993431	chr6:65121193-65121194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530984742	chr6:65121231-65121232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188308259	chr6:65121290-65121291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180871238	chr6:65121294-65121295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79445374	chr6:65121306-65121307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370003984	chr6:65121313-65121314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546928290	chr6:65121431-65121432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77904377	chr6:65121508-65121509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184890438	chr6:65121524-65121525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65112400-65112600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:65120400-65121800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:65120800-65121800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:65121800-65124200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:65121800-65125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:65124200-65124400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:65124400-65124800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:65124800-65126600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:65125000-65126600	Enhancers	Fetal Brain Male	brain
10	chr6:65125000-65126600	Enhancers	Fetal Lung	lung
11	chr6:65125000-65127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:65125200-65125600	Enhancers	Fetal Stomach	stomach
13	chr6:65125200-65126000	Enhancers	Fetal Brain Female	brain
14	chr6:65125200-65126400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:65125400-65126400	Enhancers	Adipose Nuclei	Adipose
16	chr6:65137200-65138000	Enhancers	Fetal Lung	lung
17	chr6:65142600-65143200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:65142800-65143200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:65149000-65149400	Enhancers	NHEK	skin
20	chr6:65149000-65149600	Enhancers	HUVEC	blood vessel
21	chr6:65149200-65149800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:65149400-65149800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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