Variant report

Variant	esv3692946
Chromosome Location	chr1:170372503-170380480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 285 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10919388	chr1:170372503-170372504	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569131535	chr1:170372517-170372518	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539782709	chr1:170372556-170372557	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116135150	chr1:170372586-170372587	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185215331	chr1:170372594-170372595	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35769557	chr1:170372617-170372618	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10919389	chr1:170372712-170372713	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369049574	chr1:170372721-170372722	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553164549	chr1:170372746-170372747	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145862716	chr1:170372752-170372753	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190487449	chr1:170372779-170372780	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563583086	chr1:170372888-170372889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575531537	chr1:170372906-170372907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80070776	chr1:170373037-170373038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559395797	chr1:170373062-170373063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528039245	chr1:170373092-170373093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377010046	chr1:170373097-170373098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181857783	chr1:170373104-170373105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574491336	chr1:170373110-170373111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540482834	chr1:170373190-170373191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369753022	chr1:170373210-170373211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529007882	chr1:170373266-170373267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560470493	chr1:170373273-170373274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144355754	chr1:170373324-170373325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185126528	chr1:170373342-170373343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533241376	chr1:170373353-170373354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551668759	chr1:170373402-170373403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566779934	chr1:170373435-170373436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116743372	chr1:170373456-170373457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187975786	chr1:170373458-170373459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568455304	chr1:170373482-170373483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535603462	chr1:170373510-170373511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74342185	chr1:170373533-170373534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575465940	chr1:170373606-170373607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114503644	chr1:170373611-170373612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376498286	chr1:170373635-170373636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377207674	chr1:170373638-170373639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576933201	chr1:170373746-170373747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545712631	chr1:170373765-170373766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565356727	chr1:170373790-170373791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571296756	chr1:170373809-170373810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200948698	chr1:170373819-170373820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181272526	chr1:170373888-170373889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573482887	chr1:170373908-170373909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539804181	chr1:170373965-170373966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550942486	chr1:170373968-170373969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528994023	chr1:170374010-170374011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544351328	chr1:170374011-170374012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116041794	chr1:170374030-170374031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115515856	chr1:170374054-170374055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170370400-170373400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:170371800-170372800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:170372200-170376000	Weak transcription	NHLF	lung
4	chr1:170372200-170376000	Weak transcription	Osteobl	bone
5	chr1:170372400-170376000	Weak transcription	NHDF-Ad	bronchial
6	chr1:170372800-170373200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170373200-170376000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:170373400-170376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:170376000-170376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:170376000-170377200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:170376000-170377400	Enhancers	NHLF	lung
12	chr1:170376000-170377400	Enhancers	Osteobl	bone
13	chr1:170376000-170379800	Enhancers	NHDF-Ad	bronchial
14	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:170376400-170376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:170376400-170376800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:170376400-170376800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:170376600-170377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:170376600-170379800	Weak transcription	Fetal Heart	heart
20	chr1:170376800-170377200	Enhancers	HMEC	breast
21	chr1:170376800-170377600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:170376800-170379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:170377200-170377400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:170377200-170379200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:170377400-170379000	Weak transcription	Osteobl	bone
26	chr1:170377400-170379200	Weak transcription	NHLF	lung
27	chr1:170377400-170380000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:170377600-170379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:170379000-170379200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:170379000-170380800	Enhancers	Osteobl	bone
31	chr1:170379200-170379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:170379200-170379400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:170379200-170379600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:170379200-170380600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:170379200-170380600	Enhancers	HSMM	muscle
36	chr1:170379200-170381400	Enhancers	NHLF	lung
37	chr1:170379400-170379600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:170379400-170380400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:170379400-170380400	Enhancers	NH-A	brain
40	chr1:170379400-170380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:170379600-170379800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:170379600-170380000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:170379600-170380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:170379600-170380600	Enhancers	Fetal Stomach	stomach
45	chr1:170379800-170380200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:170379800-170380400	Enhancers	Fetal Heart	heart
47	chr1:170379800-170380600	Flanking Active TSS	NHDF-Ad	bronchial
48	chr1:170379800-170381200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:170380000-170380200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:170380000-170380200	Enhancers	Ovary	ovary

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