Variant report

Variant	nsv591241
Chromosome Location	chr3:105300908-105353145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105352013..105355360-chr3:105356310..105359089,4	K562	blood:
2	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
3	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
4	chr3:105328849..105330931-chr3:105332356..105334340,2	K562	blood:
5	chr3:105326304..105329167-chr3:105329885..105331831,2	K562	blood:
6	chr3:105352621..105354226-chr3:105357589..105360065,2	K562	blood:

Extended variants
information (count: 1811 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1811 , 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	rs620165	chr3:105300908-105300909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79231703	chr3:105300924-105300925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539668713	chr3:105300925-105300926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557412575	chr3:105300949-105300950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188579174	chr3:105300965-105300966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572636781	chr3:105300998-105300999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533656918	chr3:105301004-105301005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6778668	chr3:105301006-105301007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62262975	chr3:105301024-105301025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72989999	chr3:105301043-105301044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543596810	chr3:105301098-105301099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557681025	chr3:105301110-105301111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9288812	chr3:105301137-105301138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193272999	chr3:105301174-105301175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376457688	chr3:105301191-105301192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564682879	chr3:105301205-105301206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10511245	chr3:105301215-105301216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115122056	chr3:105301223-105301224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541602002	chr3:105301226-105301227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561892329	chr3:105301259-105301260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529330935	chr3:105301274-105301275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142206540	chr3:105301284-105301285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77385681	chr3:105301285-105301286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117831936	chr3:105301300-105301301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551127352	chr3:105301309-105301310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74427322	chr3:105301317-105301318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151252962	chr3:105301343-105301344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367833182	chr3:105301344-105301345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530445387	chr3:105301368-105301369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542524217	chr3:105301386-105301387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141518649	chr3:105301388-105301389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567146760	chr3:105301450-105301451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537874568	chr3:105301490-105301491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140245549	chr3:105301512-105301513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371361087	chr3:105301524-105301525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530525790	chr3:105301525-105301526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575857585	chr3:105301532-105301533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546539772	chr3:105301554-105301555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184163298	chr3:105301568-105301569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189387655	chr3:105301601-105301602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374888447	chr3:105301628-105301629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540722440	chr3:105301631-105301632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562258829	chr3:105301649-105301650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10433370	chr3:105301668-105301669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77644738	chr3:105301686-105301687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113626358	chr3:105301709-105301710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10433371	chr3:105301711-105301712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10433372	chr3:105301720-105301721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566290908	chr3:105301725-105301726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10433373	chr3:105301742-105301743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

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

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