Variant report

Variant	esv3440229
Chromosome Location	chr1:196379179-196381377
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	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111989539	chr1:196379197-196379198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74797904	chr1:196379206-196379207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112879961	chr1:196379210-196379211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539570485	chr1:196379214-196379215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376416707	chr1:196379235-196379236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560380848	chr1:196379243-196379244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557774645	chr1:196379252-196379253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs8179435	chr1:196379265-196379266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533790493	chr1:196379272-196379273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376655990	chr1:196379284-196379285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573822905	chr1:196379293-196379294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115933700	chr1:196379315-196379316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114373397	chr1:196379325-196379326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185575765	chr1:196379326-196379327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545550470	chr1:196379428-196379429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543989970	chr1:196379451-196379452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202243607	chr1:196379452-196379453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58760665	chr1:196379506-196379507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527958521	chr1:196379520-196379521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151216467	chr1:196379521-196379522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567970819	chr1:196379553-196379554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560937233	chr1:196379606-196379607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188624095	chr1:196379634-196379635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61820909	chr1:196379678-196379679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200366878	chr1:196379700-196379701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181068084	chr1:196379704-196379705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571671104	chr1:196379755-196379756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539270020	chr1:196379815-196379816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185111050	chr1:196379816-196379817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190845077	chr1:196379823-196379824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184084499	chr1:196379828-196379829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71154741	chr1:196379841-196379842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397982507	chr1:196379855-196379856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201366892	chr1:196379856-196379857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376357801	chr1:196380043-196380044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376564448	chr1:196380098-196380099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566799522	chr1:196380108-196380109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146174208	chr1:196380116-196380117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538842415	chr1:196380153-196380154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187328863	chr1:196380158-196380159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375863076	chr1:196380164-196380165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555451355	chr1:196380177-196380178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576080455	chr1:196380190-196380191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12143027	chr1:196380205-196380206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191704319	chr1:196380218-196380219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183113707	chr1:196380224-196380225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140405826	chr1:196380225-196380226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187405378	chr1:196380230-196380231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61820910	chr1:196380234-196380235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145714989	chr1:196380240-196380241	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196372600-196383800	Weak transcription	Liver	Liver
3	chr1:196376600-196379400	Enhancers	HUVEC	blood vessel
4	chr1:196377200-196398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:196377600-196390000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196377600-196392800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:196377600-196403200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:196377800-196379200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:196377800-196402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:196378000-196393600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:196378200-196400200	Weak transcription	Fetal Kidney	kidney
12	chr1:196379000-196379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:196379000-196379200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:196379000-196379400	Enhancers	Hela-S3	cervix
15	chr1:196379000-196379400	Enhancers	NH-A	brain
16	chr1:196379000-196379600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:196379200-196379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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