Variant report

Variant	esv3386393
Chromosome Location	chr1:192721555-192722020
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	chr1:192720713..192722300-chr1:192723780..192725507,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561214582	chr1:192721559-192721560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568185419	chr1:192721570-192721571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536168875	chr1:192721584-192721585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546790773	chr1:192721587-192721588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185005157	chr1:192721592-192721593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147518523	chr1:192721608-192721609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552207553	chr1:192721633-192721634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74130470	chr1:192721638-192721639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537436384	chr1:192721641-192721642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548298308	chr1:192721679-192721680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550610634	chr1:192721696-192721697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570059661	chr1:192721702-192721703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7545839	chr1:192721711-192721712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10429900	chr1:192721756-192721757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140096780	chr1:192721791-192721792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188944325	chr1:192721826-192721827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74577422	chr1:192721827-192721828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181631299	chr1:192721838-192721839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76527267	chr1:192721846-192721847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561457132	chr1:192721852-192721853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574952936	chr1:192721862-192721863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79005953	chr1:192721865-192721866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186170639	chr1:192721903-192721904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553501065	chr1:192721954-192721955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7535996	chr1:192721970-192721971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145418375	chr1:192722007-192722008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191410788	chr1:192722014-192722015	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192720600-192723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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