Variant report

Variant	esv3452579
Chromosome Location	chr1:173543827-173545104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34818637	chr1:173543871-173543872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549344222	chr1:173543884-173543885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144875645	chr1:173543891-173543892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531594788	chr1:173543892-173543893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549713044	chr1:173543929-173543930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371293773	chr1:173543934-173543935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11582670	chr1:173543939-173543940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190179495	chr1:173543944-173543945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565368077	chr1:173543972-173543973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531304201	chr1:173544012-173544013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369703226	chr1:173544069-173544070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535843404	chr1:173544174-173544175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377015172	chr1:173544186-173544187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114184808	chr1:173544218-173544219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183372247	chr1:173544277-173544278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187555611	chr1:173544287-173544288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140016954	chr1:173544349-173544350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36089788	chr1:173544355-173544356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573627889	chr1:173544358-173544359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542200263	chr1:173544362-173544363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560565254	chr1:173544381-173544382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527725636	chr1:173544408-173544409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116885606	chr1:173544409-173544410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561290424	chr1:173544447-173544448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1570813	chr1:173544529-173544530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191200619	chr1:173544544-173544545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564970273	chr1:173544563-173544564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183872013	chr1:173544658-173544659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187916189	chr1:173544673-173544674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544859477	chr1:173544697-173544698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551017119	chr1:173544706-173544707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151055206	chr1:173544751-173544752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12076246	chr1:173544760-173544761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113097174	chr1:173544765-173544766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61828912	chr1:173544774-173544775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569596984	chr1:173544792-173544793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571022807	chr1:173544856-173544857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371499178	chr1:173544865-173544866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61554547	chr1:173544872-173544873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556793443	chr1:173544942-173544943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12041743	chr1:173544945-173544946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539225435	chr1:173544959-173544960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533562141	chr1:173544966-173544967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184601605	chr1:173544969-173544970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146767235	chr1:173544977-173544978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377017813	chr1:173544978-173544979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560320773	chr1:173544985-173544986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570340315	chr1:173545012-173545013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571153477	chr1:173545018-173545019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376071879	chr1:173545022-173545023	Weak transcription	n/a	n/a	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
Intellectual disability	22102821	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173543200-173547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173543800-173544200	Weak transcription	A549	lung
3	chr1:173544200-173544600	Enhancers	A549	lung

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