Variant report

Variant	esv3333604
Chromosome Location	chr1:175426729-175429727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545222426	chr1:175426767-175426768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373941099	chr1:175426799-175426800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74623820	chr1:175426802-175426803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373245287	chr1:175426805-175426806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527575751	chr1:175426818-175426819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148861009	chr1:175426870-175426871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375491365	chr1:175426916-175426917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377473719	chr1:175426943-175426944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370621083	chr1:175426953-175426954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189238803	chr1:175426954-175426955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529706740	chr1:175426967-175426968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549423893	chr1:175427013-175427014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373891914	chr1:175427060-175427061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs863516	chr1:175427077-175427078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116563887	chr1:175427111-175427112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571907413	chr1:175427148-175427149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145409523	chr1:175427159-175427160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534981244	chr1:175427171-175427172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555260965	chr1:175427188-175427189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568324108	chr1:175427215-175427216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537457588	chr1:175427241-175427242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571734294	chr1:175427303-175427304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181647054	chr1:175427330-175427331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573095686	chr1:175427334-175427335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369145890	chr1:175427348-175427349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577407589	chr1:175427371-175427372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115925565	chr1:175427387-175427388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146487419	chr1:175427398-175427399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191501731	chr1:175427406-175427407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114537922	chr1:175427479-175427480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377106780	chr1:175427481-175427482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529610523	chr1:175427482-175427483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs859377	chr1:175427491-175427492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562982355	chr1:175427500-175427501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375404561	chr1:175427519-175427520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532058808	chr1:175427576-175427577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181132421	chr1:175427594-175427595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566108343	chr1:175427604-175427605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72725412	chr1:175427635-175427636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144901333	chr1:175427690-175427691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568734695	chr1:175427692-175427693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565155874	chr1:175427708-175427709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537782880	chr1:175427736-175427737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557377579	chr1:175427786-175427787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570885803	chr1:175427825-175427826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539913113	chr1:175427856-175427857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34217665	chr1:175427914-175427915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114893985	chr1:175427925-175427926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371146653	chr1:175427956-175427957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554512624	chr1:175427965-175427966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175422600-175428200	Weak transcription	Fetal Brain Male	brain
2	chr1:175425400-175429200	Weak transcription	Pancreas	Pancrea
3	chr1:175428000-175428200	Bivalent/Poised TSS	Fetal Lung	lung
4	chr1:175428000-175428400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:175428000-175428400	Enhancers	Gastric	stomach
6	chr1:175428200-175429400	Enhancers	Fetal Brain Female	brain
7	chr1:175428200-175429800	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:175428200-175432200	Enhancers	Fetal Brain Male	brain
9	chr1:175428400-175429600	Enhancers	Brain Hippocampus Middle	brain
10	chr1:175428600-175429200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:175428600-175429200	Enhancers	Brain Substantia Nigra	brain
12	chr1:175428800-175429000	Enhancers	Brain Anterior Caudate	brain
13	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:175429200-175429800	Enhancers	Pancreas	Pancrea
16	chr1:175429400-175431200	Weak transcription	Fetal Brain Female	brain
17	chr1:175429600-175432600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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