Variant report

Variant	esv3330398
Chromosome Location	chr6:74611974-74621722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 401 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:401 , 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	rs35185445	chr6:74612666-74612667	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7760087	chr6:74612675-74612676	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111426116	chr6:74612687-74612688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146879867	chr6:74612704-74612705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140537190	chr6:74612717-74612718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7760110	chr6:74612718-74612719	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150040330	chr6:74612745-74612746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs3012578	chr6:74612746-74612747	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180949625	chr6:74612753-74612754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs554349620	chr6:74612768-74612769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572902843	chr6:74612822-74612823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34620638	chr6:74612834-74612835	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558343169	chr6:74612838-74612839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7745979	chr6:74612850-74612851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3005520	chr6:74612861-74612862	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113916365	chr6:74612867-74612868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111391023	chr6:74612885-74612886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542495239	chr6:74612886-74612887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560676446	chr6:74612887-74612888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34460429	chr6:74612889-74612890	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368829440	chr6:74612894-74612895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552660676	chr6:74612895-74612896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550905877	chr6:74612907-74612908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371654265	chr6:74612915-74612916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548944776	chr6:74612916-74612917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549800883	chr6:74612928-74612929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568108228	chr6:74612941-74612942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35017077	chr6:74612952-74612953	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554411096	chr6:74612966-74612967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185137593	chr6:74612989-74612990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367880209	chr6:74612990-74612991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566682301	chr6:74613055-74613056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs4540228	chr6:74613060-74613061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112537891	chr6:74613070-74613071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112207305	chr6:74613085-74613086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371937354	chr6:74613091-74613092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544321412	chr6:74613092-74613093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556198363	chr6:74613102-74613103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372143050	chr6:74613103-74613104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113862370	chr6:74613108-74613109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542554415	chr6:74613119-74613120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs116881804	chr6:74613133-74613134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs3005521	chr6:74613137-74613138	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112690177	chr6:74613145-74613146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543636268	chr6:74613149-74613150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143010913	chr6:74613150-74613151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183839334	chr6:74613151-74613152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544928030	chr6:74613154-74613155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200571814	chr6:74613155-74613156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564690413	chr6:74613157-74613158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74612600-74613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74612800-74613200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:74612800-74613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:74613400-74619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:74616000-74619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:74619400-74620000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:74619400-74620200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:74619600-74620000	ZNF genes & repeats	Gastric	stomach

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