Variant report

Variant	esv3389630
Chromosome Location	chr1:240188429-240192027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:240189746..240190908-chr1:240332012..240333362,5	MCF-7	breast:
2	chr1:240189936..240190957-chr1:240312515..240313773,4	MCF-7	breast:
3	chr1:240190054..240190930-chr1:240352376..240353152,3	K562	blood:
4	chr1:240190029..240190913-chr1:240351333..240351835,2	MCF-7	breast:
5	chr1:240190048..240190853-chr1:240352486..240353186,3	MCF-7	breast:
6	chr1:240190026..240191518-chr1:240352380..240353443,9	MCF-7	breast:
7	chr1:240190170..240190882-chr1:240312730..240313531,4	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191396569	chr1:240188444-240188445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115922150	chr1:240188498-240188499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182769156	chr1:240188501-240188502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71646805	chr1:240188508-240188509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs71646806	chr1:240188519-240188520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185080496	chr1:240188522-240188523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72762577	chr1:240188529-240188530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189545517	chr1:240188551-240188552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111474451	chr1:240188634-240188635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555350705	chr1:240188731-240188732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573545917	chr1:240188732-240188733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73124786	chr1:240188738-240188739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553083392	chr1:240188748-240188749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35828768	chr1:240188779-240188780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546437943	chr1:240188820-240188821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35151598	chr1:240188846-240188847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17610064	chr1:240188874-240188875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543719113	chr1:240188887-240188888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562157708	chr1:240188926-240188927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74404792	chr1:240188944-240188945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12075516	chr1:240188949-240188950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565849271	chr1:240189003-240189004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565083584	chr1:240189024-240189025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532319294	chr1:240189041-240189042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183326139	chr1:240189050-240189051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187635238	chr1:240189062-240189063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569709420	chr1:240189079-240189080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12072127	chr1:240189081-240189082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10926079	chr1:240189095-240189096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71646807	chr1:240189129-240189130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71646808	chr1:240189138-240189139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148301199	chr1:240189155-240189156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143071676	chr1:240189187-240189188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147489182	chr1:240189206-240189207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577837322	chr1:240189217-240189218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530568415	chr1:240189228-240189229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545081445	chr1:240189242-240189243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558342143	chr1:240189257-240189258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140008504	chr1:240189279-240189280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368153767	chr1:240189302-240189303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145544879	chr1:240189333-240189334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10926080	chr1:240189370-240189371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573959108	chr1:240189372-240189373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541046594	chr1:240189384-240189385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138232710	chr1:240189398-240189399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559275687	chr1:240189400-240189401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10926081	chr1:240189423-240189424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150679244	chr1:240189467-240189468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563544883	chr1:240189538-240189539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12127985	chr1:240189550-240189551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240185400-240188800	Weak transcription	NHDF-Ad	bronchial
2	chr1:240188800-240189000	Enhancers	NHDF-Ad	bronchial
3	chr1:240189000-240190600	Weak transcription	NHDF-Ad	bronchial
4	chr1:240190200-240190800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:240190200-240191000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:240190400-240190800	Enhancers	HUVEC	blood vessel
7	chr1:240190600-240190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:240190600-240190800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:240190600-240190800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:240190600-240190800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:240190600-240190800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:240190600-240190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:240190600-240190800	Enhancers	Brain Hippocampus Middle	brain
14	chr1:240190600-240190800	Enhancers	A549	lung
15	chr1:240190600-240190800	Enhancers	HSMM	muscle
16	chr1:240190600-240190800	Enhancers	NHLF	lung
17	chr1:240190600-240190800	Enhancers	Osteobl	bone
18	chr1:240190600-240191000	Enhancers	NHDF-Ad	bronchial
19	chr1:240190800-240193400	Weak transcription	HUVEC	blood vessel
20	chr1:240190800-240193600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:240191000-240192200	Weak transcription	A549	lung
22	chr1:240191000-240192400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:240191000-240192400	Weak transcription	NHDF-Ad	bronchial
24	chr1:240191200-240192400	Weak transcription	HSMM	muscle
25	chr1:240191400-240192400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:240192000-240192200	Weak transcription	NHLF	lung

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