Variant report

Variant	esv2756472
Chromosome Location	chr6:65906722-65937215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs686041	chr6:65906722-65906723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182145136	chr6:65906724-65906725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549986019	chr6:65906736-65906737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78733506	chr6:65906745-65906746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116746547	chr6:65906762-65906763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186702163	chr6:65906772-65906773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535856639	chr6:65906832-65906833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529457281	chr6:65906840-65906841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555445866	chr6:65906874-65906875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569212967	chr6:65906886-65906887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547804437	chr6:65906888-65906889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73741264	chr6:65906896-65906897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142337027	chr6:65906971-65906972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144577025	chr6:65906984-65906985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577860669	chr6:65907006-65907007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547772856	chr6:65907019-65907020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191564271	chr6:65907040-65907041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12207416	chr6:65907081-65907082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72881777	chr6:65907091-65907092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561566372	chr6:65907100-65907101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182534181	chr6:65907103-65907104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151249272	chr6:65907104-65907105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376875405	chr6:65907120-65907121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188428779	chr6:65907152-65907153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373835173	chr6:65907166-65907167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12213645	chr6:65907167-65907168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573749005	chr6:65907179-65907180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140373726	chr6:65907190-65907191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529201449	chr6:65907193-65907194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549243750	chr6:65907205-65907206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2224503	chr6:65907222-65907223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150380494	chr6:65907246-65907247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537841957	chr6:65907269-65907270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529680597	chr6:65907292-65907293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542706892	chr6:65907313-65907314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551462992	chr6:65907358-65907359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571363610	chr6:65907377-65907378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534147379	chr6:65907393-65907394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562780137	chr6:65907407-65907408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574165475	chr6:65907412-65907413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192899671	chr6:65907458-65907459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570341410	chr6:65907468-65907469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185401769	chr6:65907469-65907470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575315362	chr6:65907483-65907484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371976165	chr6:65907510-65907511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564186908	chr6:65907517-65907518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12665258	chr6:65907574-65907575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190333318	chr6:65907642-65907643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540299732	chr6:65907710-65907711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560122938	chr6:65907768-65907769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65902000-65910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:65909200-65909600	Enhancers	HUVEC	blood vessel
3	chr6:65910200-65910400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:65911600-65913000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:65913000-65913400	ZNF genes & repeats	Fetal Lung	lung

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