Variant report

Variant	esv3453528
Chromosome Location	chr1:239780144-239781867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:239770818..239772337-chr1:239779962..239782828,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112969079	chr1:239780152-239780153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564286211	chr1:239780199-239780200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531751467	chr1:239780203-239780204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549815005	chr1:239780423-239780424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565653303	chr1:239780461-239780462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561854735	chr1:239780538-239780539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373794403	chr1:239780560-239780561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190131459	chr1:239780563-239780564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560910368	chr1:239780609-239780610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547235112	chr1:239780619-239780620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181738708	chr1:239780665-239780666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539320071	chr1:239780678-239780679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551676159	chr1:239780752-239780753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150687402	chr1:239780758-239780759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186529363	chr1:239780764-239780765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555494253	chr1:239780812-239780813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140205641	chr1:239780852-239780853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536039221	chr1:239780853-239780854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141521372	chr1:239780902-239780903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572612879	chr1:239781010-239781011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546148807	chr1:239781017-239781018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564802197	chr1:239781033-239781034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559245793	chr1:239781048-239781049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543450590	chr1:239781061-239781062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368703016	chr1:239781095-239781096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372304343	chr1:239781096-239781097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561842060	chr1:239781107-239781108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529374168	chr1:239781135-239781136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6690612	chr1:239781166-239781167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559254865	chr1:239781196-239781197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73122675	chr1:239781221-239781222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74651079	chr1:239781310-239781311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569975610	chr1:239781317-239781318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530518269	chr1:239781321-239781322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528079398	chr1:239781326-239781327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549029699	chr1:239781351-239781352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567356997	chr1:239781353-239781354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7541603	chr1:239781363-239781364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368390631	chr1:239781377-239781378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189807829	chr1:239781436-239781437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566091938	chr1:239781445-239781446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540031851	chr1:239781447-239781448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573417206	chr1:239781486-239781487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558156979	chr1:239781538-239781539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139148859	chr1:239781540-239781541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537191410	chr1:239781556-239781557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377119323	chr1:239781573-239781574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376142562	chr1:239781577-239781578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375961726	chr1:239781578-239781579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61094722	chr1:239781595-239781596	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Prostate cancer	18632612	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239776000-239780800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:239776000-239780800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:239779600-239780400	Enhancers	Hela-S3	cervix
4	chr1:239779600-239781800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:239779800-239781800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:239780800-239781400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:239780800-239781600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:239780800-239781800	Enhancers	Fetal Muscle Leg	muscle
9	chr1:239781000-239781600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:239781200-239781600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:239781200-239781600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:239781200-239781600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:239781200-239781600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:239781200-239781800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:239781800-239784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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