Variant report

Variant	esv3497235
Chromosome Location	chr1:189703779-189725627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
2	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
3	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
4	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
5	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573140979	chr1:189720601-189720602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80001584	chr1:189720647-189720648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558782303	chr1:189720660-189720661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374865761	chr1:189720670-189720671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577955118	chr1:189720765-189720766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188315819	chr1:189720792-189720793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114323314	chr1:189720832-189720833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569510345	chr1:189720857-189720858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542519628	chr1:189720921-189720922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536872109	chr1:189720926-189720927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559333309	chr1:189721015-189721016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35037402	chr1:189721020-189721021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397982357	chr1:189721021-189721022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200369523	chr1:189721042-189721043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371316466	chr1:189721049-189721050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528051691	chr1:189721104-189721105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79172661	chr1:189721115-189721116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193184064	chr1:189721130-189721131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144685573	chr1:189721164-189721165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376703998	chr1:189721200-189721201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183867830	chr1:189721243-189721244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569407752	chr1:189721402-189721403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530361302	chr1:189721478-189721479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546957543	chr1:189721506-189721507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375290358	chr1:189721629-189721630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566906364	chr1:189721768-189721769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147617086	chr1:189721786-189721787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10800627	chr1:189721806-189721807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142120935	chr1:189721846-189721847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187913855	chr1:189721847-189721848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150179180	chr1:189721871-189721872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201980294	chr1:189721878-189721879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573863441	chr1:189721931-189721932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542934394	chr1:189721951-189721952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552988576	chr1:189721952-189721953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574357445	chr1:189721967-189721968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371308141	chr1:189721970-189721971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572835157	chr1:189721995-189721996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553655263	chr1:189722066-189722067	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10737561	chr1:189722078-189722079	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530586721	chr1:189722094-189722095	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138639855	chr1:189722108-189722109	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543888527	chr1:189722117-189722118	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561175818	chr1:189722118-189722119	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192530620	chr1:189722135-189722136	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541895782	chr1:189722136-189722137	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183465451	chr1:189722141-189722142	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532797012	chr1:189722195-189722196	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188238628	chr1:189722220-189722221	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569238142	chr1:189722234-189722235	Flanking Active TSS Enhancers	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
Ewing''s sarcoma	17952124	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:189721600-189722400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:189721600-189722600	Enhancers	Fetal Heart	heart
5	chr1:189721600-189723000	Enhancers	Fetal Lung	lung
6	chr1:189721800-189722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:189722000-189722600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:189722000-189722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:189722400-189723000	Enhancers	Hela-S3	cervix
10	chr1:189722600-189722800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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