Variant report

Variant	esv3427397
Chromosome Location	chr1:190437929-190442127
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	chr1:190438085..190440650-chr1:190553313..190555425,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539492533	chr1:190437958-190437959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182586909	chr1:190437959-190437960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138293242	chr1:190437985-190437986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542165598	chr1:190438007-190438008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550047927	chr1:190438080-190438081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187153185	chr1:190438139-190438140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369286395	chr1:190438147-190438148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377459673	chr1:190438167-190438168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572720134	chr1:190438227-190438228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551327859	chr1:190438228-190438229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1697591	chr1:190438327-190438328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115654945	chr1:190438365-190438366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547616181	chr1:190438366-190438367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543854847	chr1:190438394-190438395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368561968	chr1:190438426-190438427	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149616373	chr1:190438450-190438451	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548226386	chr1:190438471-190438472	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144312975	chr1:190438496-190438497	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527512776	chr1:190438532-190438533	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371867387	chr1:190438551-190438552	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547212544	chr1:190438553-190438554	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113037133	chr1:190438554-190438555	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578198428	chr1:190438579-190438580	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570278040	chr1:190438592-190438593	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539169384	chr1:190438594-190438595	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188285469	chr1:190438601-190438602	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569599607	chr1:190438623-190438624	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535423236	chr1:190438631-190438632	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148802488	chr1:190438634-190438635	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572797030	chr1:190438699-190438700	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541709224	chr1:190438706-190438707	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558390560	chr1:190438718-190438719	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578086058	chr1:190438722-190438723	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543598812	chr1:190438745-190438746	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536588743	chr1:190438748-190438749	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563793958	chr1:190438810-190438811	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573984605	chr1:190438821-190438822	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35771104	chr1:190438822-190438823	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542985458	chr1:190438835-190438836	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554434087	chr1:190438882-190438883	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559293784	chr1:190438913-190438914	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553837945	chr1:190438916-190438917	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376384419	chr1:190438952-190438953	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527596743	chr1:190438954-190438955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547249411	chr1:190438972-190438973	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563942771	chr1:190438986-190438987	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533149405	chr1:190438989-190438990	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549653315	chr1:190439021-190439022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180752534	chr1:190439044-190439045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572349177	chr1:190439083-190439084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190422000-190438400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:190422800-190438800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:190438400-190439000	Active TSS	Fetal Intestine Large	intestine
4	chr1:190438800-190439400	Enhancers	Fetal Intestine Small	intestine
5	chr1:190439000-190440200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:190439400-190441200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:190440000-190440200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:190440000-190448800	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:190440200-190448800	Active TSS	Fetal Intestine Large	intestine
10	chr1:190440600-190441000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:190440800-190448600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:190440800-190448800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:190441000-190445800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:190441200-190441800	Active TSS	Brain Germinal Matrix	brain
15	chr1:190441200-190443600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:190441200-190448600	Active TSS	Fetal Intestine Small	intestine
17	chr1:190441200-190448600	Active TSS	Right Atrium	heart
18	chr1:190441400-190444600	Active TSS	Brain Angular Gyrus	brain
19	chr1:190441400-190445600	Active TSS	Brain Anterior Caudate	brain
20	chr1:190441800-190442200	Active TSS	Fetal Lung	lung
21	chr1:190441800-190442600	Weak transcription	Brain Germinal Matrix	brain

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