Variant report

Variant	esv3407926
Chromosome Location	chr1:196405154-196407902
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	chr1:196407532..196410061-chr1:196416342..196417933,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116028244	chr1:196405170-196405171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370911510	chr1:196405215-196405216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546489842	chr1:196405284-196405285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549155820	chr1:196405386-196405387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573219642	chr1:196405472-196405473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538356270	chr1:196405521-196405522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140297543	chr1:196405552-196405553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193100265	chr1:196405553-196405554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145411079	chr1:196405594-196405595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184690005	chr1:196405621-196405622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148035200	chr1:196405622-196405623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375843817	chr1:196405640-196405641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7531611	chr1:196405652-196405653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570640077	chr1:196405672-196405673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534653654	chr1:196405680-196405681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12070140	chr1:196405694-196405695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140855905	chr1:196405703-196405704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75247510	chr1:196405743-196405744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578056847	chr1:196405758-196405759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75719268	chr1:196405770-196405771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76683410	chr1:196405793-196405794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559750371	chr1:196405812-196405813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567474956	chr1:196405814-196405815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372879836	chr1:196405852-196405853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115085598	chr1:196405864-196405865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565936382	chr1:196405885-196405886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150165024	chr1:196405988-196405989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561749664	chr1:196405996-196405997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573659197	chr1:196405997-196405998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534947249	chr1:196406058-196406059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544315851	chr1:196406062-196406063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562814490	chr1:196406100-196406101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201528484	chr1:196406136-196406137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377451125	chr1:196406141-196406142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369980975	chr1:196406155-196406156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371925444	chr1:196406156-196406157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373594045	chr1:196406159-196406160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375822364	chr1:196406166-196406167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376267259	chr1:196406168-196406169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376303841	chr1:196406175-196406176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370432805	chr1:196406176-196406177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369123086	chr1:196406183-196406184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372891738	chr1:196406191-196406192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376858676	chr1:196406193-196406194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373877962	chr1:196406196-196406197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375987848	chr1:196406197-196406198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370182979	chr1:196406199-196406200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374469511	chr1:196406203-196406204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377710428	chr1:196406205-196406206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371330473	chr1:196406210-196406211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196395200-196416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:196398000-196407200	Weak transcription	Liver	Liver
3	chr1:196401600-196416400	Weak transcription	Ovary	ovary
4	chr1:196407200-196407400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:196407200-196408000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:196407200-196408800	Enhancers	A549	lung
7	chr1:196407200-196408800	Enhancers	HepG2	liver
8	chr1:196407200-196409000	Enhancers	Liver	Liver
9	chr1:196407400-196407800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:196407800-196408000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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