Variant report

Variant	esv3452647
Chromosome Location	chr1:197268729-197269863
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	chr1:197258286..197260745-chr1:197266653..197268789,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576013667	chr1:197268742-197268743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543510261	chr1:197268761-197268762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs482526	chr1:197268763-197268764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576961274	chr1:197268774-197268775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541263848	chr1:197268788-197268789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376218295	chr1:197268851-197268852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559662564	chr1:197268958-197268959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201645153	chr1:197268959-197268960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574804785	chr1:197268996-197268997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543006849	chr1:197269003-197269004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149121998	chr1:197269006-197269007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531662079	chr1:197269042-197269043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550244417	chr1:197269060-197269061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565275754	chr1:197269064-197269065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189616297	chr1:197269077-197269078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75473304	chr1:197269087-197269088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143653360	chr1:197269131-197269132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536558551	chr1:197269160-197269161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535896296	chr1:197269181-197269182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549357817	chr1:197269292-197269293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182239792	chr1:197269302-197269303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536691083	chr1:197269305-197269306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558606737	chr1:197269402-197269403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576895844	chr1:197269404-197269405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187333254	chr1:197269420-197269421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151036933	chr1:197269465-197269466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574742026	chr1:197269606-197269607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537823210	chr1:197269633-197269634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377392225	chr1:197269658-197269659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191756826	chr1:197269674-197269675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145067723	chr1:197269704-197269705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565356734	chr1:197269706-197269707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183671898	chr1:197269708-197269709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547545728	chr1:197269838-197269839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78029043	chr1:197269845-197269846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530279591	chr1:197269855-197269856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548856953	chr1:197269856-197269857	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197257400-197273400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:197265800-197273600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:197268200-197269000	Enhancers	Brain Anterior Caudate	brain
4	chr1:197268400-197269200	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:197269000-197273400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:197269200-197275000	Weak transcription	Brain Cingulate Gyrus	brain

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