Variant report

Variant	esv33942
Chromosome Location	chr1:179722838-179724322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179715653..179718045-chr1:179722223..179724406,2	MCF-7	breast:
2	chr1:179713754..179715803-chr1:179723110..179724876,2	K562	blood:
3	chr1:179720423..179722014-chr1:179723830..179726146,2	K562	blood:
4	chr1:179723816..179726381-chr1:179730633..179732680,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190657172	chr1:179722838-179722839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553790604	chr1:179722846-179722847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182008378	chr1:179722857-179722858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569576422	chr1:179722865-179722866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186983190	chr1:179722891-179722892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192374846	chr1:179722927-179722928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182411467	chr1:179722928-179722929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186918468	chr1:179722929-179722930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557731160	chr1:179722961-179722962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577572877	chr1:179722965-179722966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11577101	chr1:179723051-179723052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2504049	chr1:179723055-179723056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76628040	chr1:179723070-179723071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528711833	chr1:179723072-179723073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190239385	chr1:179723078-179723079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562680760	chr1:179723080-179723081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531635607	chr1:179723082-179723083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147438948	chr1:179723130-179723131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571272533	chr1:179723166-179723167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17370084	chr1:179723197-179723198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs182824465	chr1:179723207-179723208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567336135	chr1:179723212-179723213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370612153	chr1:179723258-179723259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535706661	chr1:179723273-179723274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555921395	chr1:179723287-179723288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187221800	chr1:179723303-179723304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148477955	chr1:179723418-179723419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557992997	chr1:179723525-179723526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377447346	chr1:179723665-179723666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192816663	chr1:179723695-179723696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77941285	chr1:179723703-179723704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150614240	chr1:179723704-179723705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374128373	chr1:179723723-179723724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574068745	chr1:179723745-179723746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77731089	chr1:179723759-179723760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376717059	chr1:179723775-179723776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139669264	chr1:179723776-179723777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545337836	chr1:179723839-179723840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185372267	chr1:179723850-179723851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527314888	chr1:179723865-179723866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4511077	chr1:179723871-179723872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567293004	chr1:179723872-179723873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79887144	chr1:179723899-179723900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146806965	chr1:179723946-179723947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569120722	chr1:179723998-179723999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188642733	chr1:179724001-179724002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4469684	chr1:179724007-179724008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558058224	chr1:179724031-179724032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4269737	chr1:179724032-179724033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533978007	chr1:179724040-179724041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179721600-179723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:179722400-179723800	Enhancers	Osteobl	bone
3	chr1:179722400-179724000	Enhancers	Colon Smooth Muscle	Colon
4	chr1:179722600-179724000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:179722600-179724000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:179722800-179723600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:179722800-179723800	Enhancers	HSMMtube	muscle
8	chr1:179722800-179724000	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:179723000-179723800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:179723000-179723800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:179723400-179724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:179723600-179727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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