Variant report

Variant	esv3323344
Chromosome Location	chr1:180292279-180294377
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	chr1:180293913..180296801-chr1:180297022..180299145,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577180294	chr1:180292288-180292289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539485114	chr1:180292333-180292334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570158646	chr1:180292355-180292356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181311719	chr1:180292417-180292418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572850732	chr1:180292438-180292439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569810520	chr1:180292462-180292463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78355090	chr1:180292493-180292494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80223698	chr1:180292522-180292523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575350687	chr1:180292542-180292543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57226792	chr1:180292590-180292591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139452983	chr1:180292598-180292599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532864720	chr1:180292603-180292604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6665719	chr1:180292632-180292633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560179345	chr1:180292633-180292634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528803991	chr1:180292658-180292659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59083148	chr1:180292662-180292663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184300634	chr1:180292681-180292682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144088802	chr1:180292710-180292711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114481414	chr1:180292723-180292724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189121974	chr1:180292768-180292769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150991354	chr1:180292856-180292857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181939837	chr1:180292869-180292870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566490119	chr1:180292922-180292923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202073357	chr1:180293005-180293006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535366470	chr1:180293026-180293027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555607837	chr1:180293027-180293028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373400057	chr1:180293306-180293307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377710968	chr1:180293308-180293309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371434807	chr1:180293310-180293311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145618889	chr1:180293312-180293313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374123789	chr1:180293313-180293314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140975329	chr1:180293421-180293422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187027200	chr1:180293431-180293432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544423316	chr1:180293456-180293457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557665762	chr1:180293496-180293497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145686963	chr1:180293515-180293516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115661498	chr1:180293523-180293524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141549769	chr1:180293563-180293564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192365592	chr1:180293568-180293569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534921175	chr1:180293597-180293598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532386102	chr1:180293615-180293616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180770388	chr1:180293617-180293618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545810471	chr1:180293645-180293646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1069436	chr1:180293650-180293651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531092060	chr1:180293848-180293849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551205132	chr1:180293849-180293850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147048926	chr1:180293853-180293854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2764444	chr1:180293862-180293863	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546643761	chr1:180293866-180293867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566551041	chr1:180293901-180293902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180257800-180296200	Weak transcription	Left Ventricle	heart
2	chr1:180278000-180298200	Weak transcription	Esophagus	oesophagus
3	chr1:180278800-180296000	Weak transcription	Pancreas	Pancrea
4	chr1:180279000-180297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:180279400-180295400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:180279600-180298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:180281000-180295000	Weak transcription	Fetal Stomach	stomach
8	chr1:180281000-180295200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:180281000-180329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:180282800-180295400	Weak transcription	Primary B cells from cord blood	blood
11	chr1:180282800-180313400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180283000-180295000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:180283000-180302800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:180283000-180302800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:180293800-180296600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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