Variant report

Variant	esv9954
Chromosome Location	chr6:65848155-65878849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 504 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540113965	chr6:65856014-65856015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558628386	chr6:65856019-65856020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150812014	chr6:65856038-65856039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184148744	chr6:65856058-65856059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74805224	chr6:65856059-65856060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397975639	chr6:65856066-65856067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554623799	chr6:65856068-65856069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115928281	chr6:65856096-65856097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534120854	chr6:65856110-65856111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543638388	chr6:65856135-65856136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200145842	chr6:65856142-65856143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144300841	chr6:65856144-65856145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78201728	chr6:65856147-65856148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112648015	chr6:65856150-65856151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187437506	chr6:65856167-65856168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576773794	chr6:65856199-65856200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577006370	chr6:65856211-65856212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545682719	chr6:65856212-65856213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561918547	chr6:65856231-65856232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191312660	chr6:65856233-65856234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139265332	chr6:65856329-65856330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370608432	chr6:65856337-65856338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530890677	chr6:65856435-65856436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551180051	chr6:65856460-65856461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16896349	chr6:65856461-65856462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533679398	chr6:65856527-65856528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547271003	chr6:65856528-65856529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565703911	chr6:65856534-65856535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556189231	chr6:65856535-65856536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574611175	chr6:65856536-65856537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77646226	chr6:65856548-65856549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16896350	chr6:65856573-65856574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530396802	chr6:65857843-65857844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs116031431	chr6:65857863-65857864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570245714	chr6:65857874-65857875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541969413	chr6:65857900-65857901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185098970	chr6:65857926-65857927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546433305	chr6:65857953-65857954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112746531	chr6:65857983-65857984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147375430	chr6:65858038-65858039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs77421252	chr6:65858040-65858041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs6913190	chr6:65858049-65858050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs572366062	chr6:65858056-65858057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148417827	chr6:65858073-65858074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569251485	chr6:65858104-65858105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190292982	chr6:65858116-65858117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181981544	chr6:65858118-65858119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185731120	chr6:65858164-65858165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540722067	chr6:65858177-65858178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554416219	chr6:65858179-65858180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
2	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
6	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
10	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
11	chr6:65871600-65872200	Enhancers	HepG2	liver
12	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
13	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
14	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
15	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain

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