Variant report

Variant	esv2763575
Chromosome Location	chr6:72227746-72240130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 246 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543803	chr6:72233877-72233878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575607795	chr6:72233905-72233906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370518222	chr6:72233916-72233917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74515310	chr6:72233992-72233993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144146470	chr6:72233994-72233995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561214537	chr6:72233995-72233996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573369863	chr6:72234007-72234008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540869236	chr6:72234009-72234010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565487402	chr6:72234010-72234011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573221916	chr6:72234074-72234075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567446	chr6:72234089-72234090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577466811	chr6:72234099-72234100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540239603	chr6:72234102-72234103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370209669	chr6:72234104-72234105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141421534	chr6:72234129-72234130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533069607	chr6:72234137-72234138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563026204	chr6:72234141-72234142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150816478	chr6:72234146-72234147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368642698	chr6:72234209-72234210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16881433	chr6:72234288-72234289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182034507	chr6:72234346-72234347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184675285	chr6:72234349-72234350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189945680	chr6:72234380-72234381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117097839	chr6:72234441-72234442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532170419	chr6:72234452-72234453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550883017	chr6:72234507-72234508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569033994	chr6:72234510-72234511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375693548	chr6:72234543-72234544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180869578	chr6:72234586-72234587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554991624	chr6:72234596-72234597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111810450	chr6:72234805-72234806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528051993	chr6:72234809-72234810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9360458	chr6:72234812-72234813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564618875	chr6:72234822-72234823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376331390	chr6:72234852-72234853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556942016	chr6:72234857-72234858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144329169	chr6:72234868-72234869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5877282	chr6:72234878-72234879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147374899	chr6:72234880-72234881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550496370	chr6:72234881-72234882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34076198	chr6:72234890-72234891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569172026	chr6:72234895-72234896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191826	chr6:72234945-72234946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529953513	chr6:72234951-72234952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546974591	chr6:72234965-72234966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575834873	chr6:72234966-72234967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553531073	chr6:72234968-72234969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548456831	chr6:72234976-72234977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566893605	chr6:72234989-72234990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371445865	chr6:72235008-72235009	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Developmental delay	21147756	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
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72233800-72234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:72234000-72234600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:72234800-72237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:72235600-72236000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:72236000-72239400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:72236200-72236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:72236800-72238000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:72237000-72238000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:72237200-72238000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:72237200-72238200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:72237200-72238200	Enhancers	HUVEC	blood vessel
12	chr6:72237400-72237800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:72237400-72238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:72237600-72237800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:72237600-72237800	Enhancers	Osteobl	bone
16	chr6:72237600-72238000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:72237600-72238200	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:72237800-72238000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:72238000-72239600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:72238000-72241800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:72238400-72239600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:72238800-72241400	Enhancers	Fetal Lung	lung
23	chr6:72239400-72239800	Enhancers	Fetal Brain Female	brain
24	chr6:72239400-72240400	Enhancers	Fetal Stomach	stomach
25	chr6:72239400-72240600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:72239400-72240600	Enhancers	Fetal Heart	heart
27	chr6:72239400-72240800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:72239600-72239800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:72239600-72241000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:72239600-72241000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:72239800-72240000	Enhancers	Pancreas	Pancrea
32	chr6:72239800-72240200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:72240000-72240600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:72240000-72240600	Enhancers	Brain Germinal Matrix	brain

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