Variant report

Variant	esv3366823
Chromosome Location	chr6:121043302-121064055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 425 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185019942	chr6:121052805-121052806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557335515	chr6:121052830-121052831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140295497	chr6:121052864-121052865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546345750	chr6:121052906-121052907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559868434	chr6:121052957-121052958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12191448	chr6:121052977-121052978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535490292	chr6:121053032-121053033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541247479	chr6:121053058-121053059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554420957	chr6:121053061-121053062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576303938	chr6:121053070-121053071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560872441	chr6:121053157-121053158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71565253	chr6:121053190-121053191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566070661	chr6:121053218-121053219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115353419	chr6:121053268-121053269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6930356	chr6:121053336-121053337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564936963	chr6:121053361-121053362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73770713	chr6:121053369-121053370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531961020	chr6:121053387-121053388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189398947	chr6:121053401-121053402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370722554	chr6:121053407-121053408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112123847	chr6:121053443-121053444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181014631	chr6:121053537-121053538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186063736	chr6:121053538-121053539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6935477	chr6:121053596-121053597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528146793	chr6:121053612-121053613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188974729	chr6:121053645-121053646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568524108	chr6:121053660-121053661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6935352	chr6:121053687-121053688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181395495	chr6:121053707-121053708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570891543	chr6:121053713-121053714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529694981	chr6:121053746-121053747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539854520	chr6:121053802-121053803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548256012	chr6:121053853-121053854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553372961	chr6:121053856-121053857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186251658	chr6:121053871-121053872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148153058	chr6:121053881-121053882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554789567	chr6:121053893-121053894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574543263	chr6:121053921-121053922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543729353	chr6:121053938-121053939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72969940	chr6:121053942-121053943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73541620	chr6:121054013-121054014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9401327	chr6:121054045-121054046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558879025	chr6:121054053-121054054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552691188	chr6:121054203-121054204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528184049	chr6:121054245-121054246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547972790	chr6:121054246-121054247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568687543	chr6:121054264-121054265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530993910	chr6:121054275-121054276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551116240	chr6:121054297-121054298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571180589	chr6:121054318-121054319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121052800-121056600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:121054400-121054800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:121056600-121058200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:121056600-121058600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:121056800-121058000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:121056800-121058000	Enhancers	HMEC	breast
7	chr6:121056800-121058800	Enhancers	NHEK	skin
8	chr6:121058200-121067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:121062200-121062600	Enhancers	Brain Germinal Matrix	brain
10	chr6:121062600-121063600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:121063800-121064000	Enhancers	Brain Germinal Matrix	brain

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