Variant report

Variant	esv10790
Chromosome Location	chr1:175022386-175025930
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	chr1:174990991..174992562-chr1:175023200..175025789,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120333	chromatin interactions
ENSG00000206659	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2861107	chr1:175023224-175023225	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542939821	chr1:175023239-175023240	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150010633	chr1:175023241-175023242	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576617007	chr1:175023243-175023244	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370002821	chr1:175023285-175023286	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561513187	chr1:175023322-175023323	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375480726	chr1:175023344-175023345	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112205171	chr1:175023345-175023346	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113459505	chr1:175023348-175023349	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564160752	chr1:175023353-175023354	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11809097	chr1:175023367-175023368	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183422001	chr1:175023403-175023404	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540202344	chr1:175023425-175023426	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560213620	chr1:175023438-175023439	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79362515	chr1:175023457-175023458	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558464121	chr1:175023514-175023515	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145291203	chr1:175023526-175023527	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568950578	chr1:175023539-175023540	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531582710	chr1:175023542-175023543	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370157167	chr1:175023646-175023647	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537850165	chr1:175023669-175023670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs59391278	chr1:175023707-175023708	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149190316	chr1:175023726-175023727	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77989459	chr1:175023759-175023760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs116326515	chr1:175023760-175023761	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567353691	chr1:175023860-175023861	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536539538	chr1:175023882-175023883	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs55722817	chr1:175023886-175023887	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56119006	chr1:175023888-175023889	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192196405	chr1:175023897-175023898	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184036748	chr1:175023933-175023934	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75308228	chr1:175023951-175023952	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545542380	chr1:175023997-175023998	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558902947	chr1:175024063-175024064	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577786021	chr1:175024066-175024067	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs145123077	chr1:175024101-175024102	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560175189	chr1:175024105-175024106	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71563267	chr1:175024147-175024148	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73043034	chr1:175024149-175024150	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74128558	chr1:175024176-175024177	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574489705	chr1:175024178-175024179	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553926878	chr1:175024198-175024199	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539919662	chr1:175024278-175024279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140724394	chr1:175024353-175024354	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187256014	chr1:175024388-175024389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531518349	chr1:175024397-175024398	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551523710	chr1:175024398-175024399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564957543	chr1:175024450-175024451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527760898	chr1:175024514-175024515	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573508461	chr1:175024534-175024535	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175023800-175024200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:175023800-175024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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