Variant report

Variant	esv3432787
Chromosome Location	chr6:62790293-62793691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536890316	chr6:62790294-62790295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555201796	chr6:62790296-62790297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576836740	chr6:62790297-62790298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556894158	chr6:62790307-62790308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561211371	chr6:62790316-62790317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377579420	chr6:62790331-62790332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567526959	chr6:62790372-62790373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544078720	chr6:62790393-62790394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186346766	chr6:62790394-62790395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576746180	chr6:62790401-62790402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540770550	chr6:62790428-62790429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558981461	chr6:62790482-62790483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535895369	chr6:62790570-62790571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191596812	chr6:62790588-62790589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183049762	chr6:62790593-62790594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563118047	chr6:62790596-62790597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187694676	chr6:62790601-62790602	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528780863	chr6:62790712-62790713	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571571460	chr6:62790752-62790753	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552669548	chr6:62790753-62790754	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532498288	chr6:62790759-62790760	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547804445	chr6:62790793-62790794	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566226511	chr6:62790852-62790853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142793937	chr6:62790869-62790870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555236658	chr6:62790902-62790903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570197463	chr6:62790903-62790904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576941486	chr6:62790920-62790921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537367842	chr6:62790944-62790945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559159363	chr6:62790945-62790946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146064631	chr6:62790955-62790956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190872751	chr6:62790957-62790958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148288377	chr6:62790975-62790976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183267817	chr6:62790992-62790993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565581175	chr6:62791037-62791038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141469194	chr6:62791056-62791057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539518149	chr6:62791146-62791147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188032005	chr6:62791154-62791155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192073218	chr6:62791177-62791178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545659353	chr6:62791208-62791209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551216749	chr6:62791224-62791225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545790267	chr6:62791230-62791231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184689473	chr6:62791255-62791256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188410587	chr6:62791256-62791257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150850068	chr6:62791272-62791273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566064648	chr6:62791273-62791274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374844091	chr6:62791288-62791289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192818627	chr6:62791324-62791325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139167679	chr6:62791347-62791348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184859372	chr6:62791358-62791359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371330232	chr6:62791378-62791379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62784000-62793000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:62784200-62798400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:62784200-62802600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:62784600-62793400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:62785200-62790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:62787800-62793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:62788000-62799400	Weak transcription	Primary B cells from cord blood	blood
8	chr6:62790600-62790800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:62793000-62793600	Strong transcription	Fetal Intestine Small	intestine
10	chr6:62793200-62793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:62793200-62793800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:62793400-62793600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:62793400-62793600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:62793600-62795200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:62793600-62798400	Weak transcription	Fetal Intestine Small	intestine

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