Variant report

Variant	nsv1000945
Chromosome Location	chr1:170367650-170401770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1023 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12096862	chr1:170367650-170367651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574243633	chr1:170367655-170367656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377622054	chr1:170367682-170367683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544936545	chr1:170367694-170367695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12096909	chr1:170367736-170367737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs58176689	chr1:170367740-170367741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545039960	chr1:170367812-170367813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183729261	chr1:170367817-170367818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72707633	chr1:170367834-170367835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542415347	chr1:170367924-170367925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561174735	chr1:170367984-170367985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369534410	chr1:170367996-170367997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549689718	chr1:170368004-170368005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568894940	chr1:170368031-170368032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533121571	chr1:170368041-170368042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551381450	chr1:170368068-170368069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1333143	chr1:170368074-170368075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79294325	chr1:170368076-170368077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188787527	chr1:170368131-170368132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181274141	chr1:170368145-170368146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543904652	chr1:170368153-170368154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184689178	chr1:170368175-170368176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556863458	chr1:170368181-170368182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77027857	chr1:170368433-170368434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538593819	chr1:170368446-170368447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553809740	chr1:170368454-170368455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567944776	chr1:170368533-170368534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572034410	chr1:170368544-170368545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542752276	chr1:170368651-170368652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560894951	chr1:170368725-170368726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561146598	chr1:170368824-170368825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576219556	chr1:170368875-170368876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543228237	chr1:170368903-170368904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564808786	chr1:170368907-170368908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377172611	chr1:170368953-170368954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189827060	chr1:170368987-170368988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182402750	chr1:170369012-170369013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71635662	chr1:170369030-170369031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551354457	chr1:170369041-170369042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148071225	chr1:170369067-170369068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76274753	chr1:170369105-170369106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398074406	chr1:170369110-170369111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397692902	chr1:170369111-170369112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187068951	chr1:170369130-170369131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549490966	chr1:170369204-170369205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567672992	chr1:170369225-170369226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538416110	chr1:170369253-170369254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546730307	chr1:170369321-170369322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61138290	chr1:170369322-170369323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550403453	chr1:170369330-170369331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170364200-170367800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:170364400-170368800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:170364600-170371400	Weak transcription	NHLF	lung
4	chr1:170367600-170368600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:170367800-170370800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:170368800-170370400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:170370400-170373400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:170370800-170371600	Enhancers	Adipose Nuclei	Adipose
9	chr1:170370800-170371800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:170371200-170372400	Enhancers	NHDF-Ad	bronchial
11	chr1:170371400-170372200	Enhancers	NHLF	lung
12	chr1:170371600-170372200	Enhancers	Osteobl	bone
13	chr1:170371800-170372800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:170372200-170376000	Weak transcription	NHLF	lung
15	chr1:170372200-170376000	Weak transcription	Osteobl	bone
16	chr1:170372400-170376000	Weak transcription	NHDF-Ad	bronchial
17	chr1:170372800-170373200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:170373200-170376000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:170373400-170376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:170376000-170376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:170376000-170377200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:170376000-170377400	Enhancers	NHLF	lung
23	chr1:170376000-170377400	Enhancers	Osteobl	bone
24	chr1:170376000-170379800	Enhancers	NHDF-Ad	bronchial
25	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:170376400-170376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:170376400-170376800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:170376400-170376800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:170376600-170377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:170376600-170379800	Weak transcription	Fetal Heart	heart
31	chr1:170376800-170377200	Enhancers	HMEC	breast
32	chr1:170376800-170377600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:170376800-170379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:170377200-170377400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:170377200-170379200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:170377400-170379000	Weak transcription	Osteobl	bone
37	chr1:170377400-170379200	Weak transcription	NHLF	lung
38	chr1:170377400-170380000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:170377600-170379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:170379000-170379200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:170379000-170380800	Enhancers	Osteobl	bone
42	chr1:170379200-170379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:170379200-170379400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:170379200-170379600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:170379200-170380600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:170379200-170380600	Enhancers	HSMM	muscle
47	chr1:170379200-170381400	Enhancers	NHLF	lung
48	chr1:170379400-170379600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:170379400-170380400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:170379400-170380400	Enhancers	NH-A	brain

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