Variant report

Variant	esv2754142
Chromosome Location	chr6:119717806-119748647
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119730819..119732878-chr6:119745962..119748059,2	K562	blood:
2	chr6:119730170..119732878-chr6:119745962..119749242,4	K562	blood:
3	chr6:119478156..119480069-chr6:119745368..119747370,2	K562	blood:
4	chr6:119730819..119732878-chr6:119745962..119748059,2	K562	blood:
5	chr6:119746548..119748341-chr6:119750350..119752791,2	MCF-7	breast:
6	chr6:119730170..119732878-chr6:119745962..119749242,4	K562	blood:
7	chr6:119745246..119748327-chr6:119749609..119753522,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASF1A-2	chr6:119738759-119738843	XLOC_005448

No data

Variant related genes	Relation type
E2F3	miRNA target sites

Extended variants
information (count: 214 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9401139	chr6:119717806-119717807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150110723	chr6:119717808-119717809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533283871	chr6:119717836-119717837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185222407	chr6:119717840-119717841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574408460	chr6:119717954-119717955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118019951	chr6:119717988-119717989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76936674	chr6:119718076-119718077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543635063	chr6:119718088-119718089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377465397	chr6:119718112-119718113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559239712	chr6:119718133-119718134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138543856	chr6:119718182-119718183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546312110	chr6:119718269-119718270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149397161	chr6:119718279-119718280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539441743	chr6:119718326-119718327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548615903	chr6:119718349-119718350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568728031	chr6:119718353-119718354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531236953	chr6:119718400-119718401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550893555	chr6:119718409-119718410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191607823	chr6:119718416-119718417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181240300	chr6:119718433-119718434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577460994	chr6:119718462-119718463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72952938	chr6:119718469-119718470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187006142	chr6:119718472-119718473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191395602	chr6:119718495-119718496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565660102	chr6:119718512-119718513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183361445	chr6:119718523-119718524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554145430	chr6:119718566-119718567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574387442	chr6:119718574-119718575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77068455	chr6:119718621-119718622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556861740	chr6:119718628-119718629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576993988	chr6:119718731-119718732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187616410	chr6:119718754-119718755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190837578	chr6:119718757-119718758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559762924	chr6:119718759-119718760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144795737	chr6:119718844-119718845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542199780	chr6:119718874-119718875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182297540	chr6:119718906-119718907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531224779	chr6:119718929-119718930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530224899	chr6:119719012-119719013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114198174	chr6:119719013-119719014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186648267	chr6:119719014-119719015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549680192	chr6:119719024-119719025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533542535	chr6:119719034-119719035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114856190	chr6:119719035-119719036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138453233	chr6:119719038-119719039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111611992	chr6:119719053-119719054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367567150	chr6:119719088-119719089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569846917	chr6:119719109-119719110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541630770	chr6:119719113-119719114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534457475	chr6:119719117-119719118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119689600-119720600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:119720600-119720800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119729800-119730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:119729800-119730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:119739000-119739400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119746600-119747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:119747000-119747200	Enhancers	Adipose Nuclei	Adipose
8	chr6:119747200-119747600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:119747200-119748400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:119747400-119748400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:119747600-119747800	Enhancers	Adipose Nuclei	Adipose
12	chr6:119747600-119748200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:119747800-119748000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:119747800-119748000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr6:119747800-119748000	Enhancers	Aorta	Aorta
16	chr6:119747800-119748200	Enhancers	Colon Smooth Muscle	Colon
17	chr6:119747800-119748200	Enhancers	Pancreas	Pancrea
18	chr6:119747800-119748200	Enhancers	HSMMtube	muscle
19	chr6:119747800-119748400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:119748000-119748200	Enhancers	Adipose Nuclei	Adipose
21	chr6:119748000-119750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:119748200-119749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:119748200-119750000	Weak transcription	HSMMtube	muscle
24	chr6:119748200-119767000	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:119748400-119749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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