Variant report

Variant	esv3383016
Chromosome Location	chr1:239574235-239576242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375150847	chr1:239574308-239574309	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572122419	chr1:239574312-239574313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542283819	chr1:239574325-239574326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111949768	chr1:239574328-239574329	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145485123	chr1:239574365-239574366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553991121	chr1:239574367-239574368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576521913	chr1:239574370-239574371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78285195	chr1:239574380-239574381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115481542	chr1:239574393-239574394	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529161013	chr1:239574403-239574404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572392130	chr1:239574464-239574465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182783246	chr1:239574468-239574469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373408878	chr1:239574510-239574511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577732325	chr1:239574559-239574560	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543518125	chr1:239574573-239574574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559366899	chr1:239574640-239574641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545908878	chr1:239574656-239574657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11577797	chr1:239574661-239574662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs551453127	chr1:239574684-239574685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573768066	chr1:239574708-239574709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111650611	chr1:239574711-239574712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187026836	chr1:239574714-239574715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372693623	chr1:239574730-239574731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550083333	chr1:239574744-239574745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57533762	chr1:239574749-239574750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189942030	chr1:239574751-239574752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375883466	chr1:239574832-239574833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377211606	chr1:239574870-239574871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565696826	chr1:239574922-239574923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532230915	chr1:239574950-239574951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550076332	chr1:239574952-239574953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539438113	chr1:239574979-239574980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112007525	chr1:239574989-239574990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144300476	chr1:239575003-239575004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576435723	chr1:239575017-239575018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78431331	chr1:239575020-239575021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543928757	chr1:239575118-239575119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370749640	chr1:239575126-239575127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555235500	chr1:239575163-239575164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544102121	chr1:239575164-239575165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573798898	chr1:239575175-239575176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113708128	chr1:239575188-239575189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559698118	chr1:239575252-239575253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78481598	chr1:239575254-239575255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9428469	chr1:239575266-239575267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9428470	chr1:239575276-239575277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143516239	chr1:239575299-239575300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77474584	chr1:239575301-239575302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9428829	chr1:239575310-239575311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563325051	chr1:239575312-239575313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239570600-239581400	Weak transcription	Ovary	ovary
2	chr1:239572200-239577400	Weak transcription	Pancreas	Pancrea
3	chr1:239572800-239581400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:239573400-239574800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:239573800-239574600	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:239573800-239574600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:239573800-239574600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:239573800-239574600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:239573800-239574800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:239573800-239574800	Enhancers	Fetal Stomach	stomach
11	chr1:239574000-239574400	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr1:239574200-239574600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr1:239574400-239574800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:239574400-239576200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:239574600-239577000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:239574600-239577200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:239574600-239577200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:239574600-239577400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:239574800-239576600	Weak transcription	Fetal Stomach	stomach
20	chr1:239574800-239576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:239574800-239576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:239574800-239577800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:239576200-239576600	Strong transcription	Fetal Intestine Small	intestine

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