Variant report

Variant	nsv1002164
Chromosome Location	chr3:105300233-105351011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
2	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
3	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
4	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:

Extended variants
information (count: 1842 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559668724	chr3:105300268-105300269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530210949	chr3:105300332-105300333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141550232	chr3:105300365-105300366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569646414	chr3:105300370-105300371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115492835	chr3:105300406-105300407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530882393	chr3:105300419-105300420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78485317	chr3:105300442-105300443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74937959	chr3:105300455-105300456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73854328	chr3:105300461-105300462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533204916	chr3:105300468-105300469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546895002	chr3:105300518-105300519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78275375	chr3:105300552-105300553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568396821	chr3:105300579-105300580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535754729	chr3:105300740-105300741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556849231	chr3:105300741-105300742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139444561	chr3:105300757-105300758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192154782	chr3:105300758-105300759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141676692	chr3:105300761-105300762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146206577	chr3:105300777-105300778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539870500	chr3:105300782-105300783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139355735	chr3:105300809-105300810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574999992	chr3:105300816-105300817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62262973	chr3:105300844-105300845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116868243	chr3:105300846-105300847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62262974	chr3:105300848-105300849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144092965	chr3:105300867-105300868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16851323	chr3:105300879-105300880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143997455	chr3:105300882-105300883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546979095	chr3:105300887-105300888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185310770	chr3:105300897-105300898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535341255	chr3:105300903-105300904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs620165	chr3:105300908-105300909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs79231703	chr3:105300924-105300925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539668713	chr3:105300925-105300926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557412575	chr3:105300949-105300950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188579174	chr3:105300965-105300966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572636781	chr3:105300998-105300999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533656918	chr3:105301004-105301005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6778668	chr3:105301006-105301007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62262975	chr3:105301024-105301025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72989999	chr3:105301043-105301044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543596810	chr3:105301098-105301099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557681025	chr3:105301110-105301111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9288812	chr3:105301137-105301138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193272999	chr3:105301174-105301175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376457688	chr3:105301191-105301192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564682879	chr3:105301205-105301206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10511245	chr3:105301215-105301216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115122056	chr3:105301223-105301224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541602002	chr3:105301226-105301227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
3	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:105272400-105302800	Weak transcription	NHEK	skin
5	chr3:105273200-105303000	Weak transcription	HMEC	breast
6	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:105296800-105303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:105297000-105303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:105299200-105300600	Enhancers	HSMMtube	muscle
11	chr3:105299800-105300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:105300000-105307800	Weak transcription	HSMM	muscle
13	chr3:105300600-105302800	Weak transcription	HSMMtube	muscle
14	chr3:105302600-105303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:105302800-105303400	Enhancers	HSMMtube	muscle
16	chr3:105302800-105304000	Enhancers	NHEK	skin
17	chr3:105303000-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:105303000-105303600	ZNF genes & repeats	Aorta	Aorta
19	chr3:105303000-105304200	Enhancers	HMEC	breast
20	chr3:105303200-105303400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:105303200-105303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:105303200-105303600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:105303200-105303600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:105312000-105312800	Weak transcription	HSMM	muscle
25	chr3:105312200-105315000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:105312400-105314200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:105312400-105314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:105312600-105313400	Enhancers	NH-A	brain
29	chr3:105312600-105313400	Enhancers	NHDF-Ad	bronchial
30	chr3:105312600-105313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:105312600-105313800	Enhancers	HMEC	breast
32	chr3:105312600-105314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:105312600-105314200	Enhancers	NHLF	lung
34	chr3:105312800-105313200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr3:105312800-105313600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:105312800-105313800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:105312800-105313800	Enhancers	HSMM	muscle
38	chr3:105312800-105314000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:105312800-105314200	Enhancers	Osteobl	bone
40	chr3:105313200-105313600	Enhancers	NHEK	skin
41	chr3:105313400-105313800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:105313400-105316400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:105313400-105316600	Weak transcription	NH-A	brain
44	chr3:105313600-105314000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:105313600-105316600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:105313600-105316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:105313800-105314000	Weak transcription	HSMM	muscle
48	chr3:105313800-105316600	Weak transcription	HMEC	breast
49	chr3:105313800-105316800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:105314000-105314400	Enhancers	HSMM	muscle

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