Variant report

Variant	esv1797236
Chromosome Location	chr1:240121828-240130988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:240120198..240122031-chr1:240124855..240126367,2	MCF-7	breast:
2	chr1:240120788..240123095-chr1:240126047..240128075,2	K562	blood:
3	chr1:240125187..240126841-chr1:240129827..240131822,2	K562	blood:
4	chr1:240120198..240122031-chr1:240124855..240126367,2	MCF-7	breast:
5	chr1:240120788..240123095-chr1:240126047..240128075,2	K562	blood:
6	chr1:240125187..240126841-chr1:240129827..240131822,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552470426	chr1:240124656-240124657	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs192217380	chr1:240124677-240124678	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs116476759	chr1:240124684-240124685	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs116732640	chr1:240124690-240124691	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs541593432	chr1:240124729-240124730	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560167969	chr1:240124742-240124743	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs563286592	chr1:240124794-240124795	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs527350948	chr1:240124813-240124814	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs576592130	chr1:240124841-240124842	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs540844880	chr1:240124843-240124844	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs543624179	chr1:240124887-240124888	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs140849103	chr1:240124900-240124901	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs10926039	chr1:240124920-240124921	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551252010	chr1:240124922-240124923	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs562778075	chr1:240124924-240124925	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs375915918	chr1:240124927-240124928	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs114756588	chr1:240124954-240124955	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs183597726	chr1:240124987-240124988	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs562213139	chr1:240124990-240124991	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs566973116	chr1:240125006-240125007	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs187505354	chr1:240125008-240125009	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551959635	chr1:240125023-240125024	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs570311793	chr1:240125030-240125031	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs147941112	chr1:240125033-240125034	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs556405034	chr1:240125035-240125036	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143820837	chr1:240125042-240125043	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs370162551	chr1:240125079-240125080	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs191966407	chr1:240125088-240125089	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs114902706	chr1:240125090-240125091	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs12127388	chr1:240125125-240125126	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1005852	chr1:240125126-240125127	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565524254	chr1:240125140-240125141	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs74149291	chr1:240125180-240125181	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs544607110	chr1:240125206-240125207	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs563220391	chr1:240125216-240125217	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs530295509	chr1:240125242-240125243	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs12408878	chr1:240125264-240125265	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74518104	chr1:240125289-240125290	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs77561750	chr1:240125314-240125315	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs552245397	chr1:240125379-240125380	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240124600-240125400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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