Variant report

Variant	esv3409802
Chromosome Location	chr1:196402929-196408127
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: 199 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151303848	chr1:196402935-196402936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370767831	chr1:196402937-196402938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs946756	chr1:196402950-196402951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192023080	chr1:196402957-196402958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570080196	chr1:196403044-196403045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181807890	chr1:196403067-196403068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139387911	chr1:196403088-196403089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570907661	chr1:196403149-196403150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538494879	chr1:196403223-196403224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553927444	chr1:196403260-196403261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565489776	chr1:196403289-196403290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374495238	chr1:196403297-196403298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112909164	chr1:196403323-196403324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561229824	chr1:196403432-196403433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186112589	chr1:196403473-196403474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575656202	chr1:196403475-196403476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367944750	chr1:196403505-196403506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543387904	chr1:196403536-196403537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558406010	chr1:196403547-196403548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531801989	chr1:196403555-196403556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551212583	chr1:196403566-196403567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549933727	chr1:196403572-196403573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576864041	chr1:196403587-196403588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116103938	chr1:196403592-196403593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559993471	chr1:196403609-196403610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74136546	chr1:196403612-196403613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571319157	chr1:196403639-196403640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528368422	chr1:196403699-196403700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542560485	chr1:196403700-196403701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563949528	chr1:196403742-196403743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538312818	chr1:196403805-196403806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530962674	chr1:196403848-196403849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552534348	chr1:196403876-196403877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570900932	chr1:196403897-196403898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528587373	chr1:196403961-196403962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190631991	chr1:196403990-196403991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561656793	chr1:196404092-196404093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74136548	chr1:196404114-196404115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182820035	chr1:196404124-196404125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554474246	chr1:196404125-196404126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187923840	chr1:196404159-196404160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569601151	chr1:196404202-196404203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536688922	chr1:196404261-196404262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111547658	chr1:196404265-196404266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372359470	chr1:196404266-196404267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111932794	chr1:196404267-196404268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71154743	chr1:196404269-196404270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541131625	chr1:196404270-196404271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71686867	chr1:196404313-196404314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553075104	chr1:196404407-196404408	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196377600-196403200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:196387200-196403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:196391600-196403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:196395200-196416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:196398000-196407200	Weak transcription	Liver	Liver
6	chr1:196401600-196416400	Weak transcription	Ovary	ovary
7	chr1:196407200-196407400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:196407200-196408000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:196407200-196408800	Enhancers	A549	lung
10	chr1:196407200-196408800	Enhancers	HepG2	liver
11	chr1:196407200-196409000	Enhancers	Liver	Liver
12	chr1:196407400-196407800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:196407800-196408000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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