Variant report

Variant	nsv3730
Chromosome Location	chr3:22542730-22587425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22527480..22530262-chr3:22542907..22545144,2	K562	blood:

Extended variants
information (count: 817 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17011506	chr3:22545446-22545447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562152747	chr3:22545450-22545451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574329820	chr3:22545480-22545481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138836714	chr3:22545497-22545498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575550353	chr3:22545530-22545531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191642891	chr3:22545604-22545605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372485804	chr3:22545613-22545614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184550637	chr3:22545637-22545638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149400327	chr3:22545653-22545654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537964875	chr3:22545659-22545660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560105947	chr3:22545682-22545683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527283236	chr3:22545696-22545697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4479616	chr3:22545705-22545706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188647745	chr3:22545713-22545714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567002111	chr3:22545728-22545729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537684937	chr3:22545804-22545805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115220667	chr3:22545809-22545810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571326127	chr3:22545836-22545837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538928102	chr3:22545851-22545852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147521631	chr3:22545852-22545853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74470092	chr3:22545875-22545876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557798105	chr3:22545929-22545930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534180479	chr3:22545976-22545977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78148300	chr3:22545982-22545983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574164653	chr3:22545989-22545990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140187755	chr3:22546061-22546062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576650625	chr3:22546082-22546083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545621326	chr3:22546092-22546093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563116425	chr3:22546097-22546098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578082312	chr3:22546125-22546126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545728297	chr3:22546127-22546128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77390460	chr3:22546156-22546157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527311820	chr3:22546163-22546164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145612594	chr3:22546164-22546165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537682750	chr3:22546173-22546174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573094293	chr3:22546214-22546215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147328681	chr3:22546240-22546241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148394130	chr3:22546250-22546251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375726940	chr3:22546285-22546286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538446209	chr3:22546297-22546298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73045263	chr3:22546312-22546313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561529109	chr3:22546317-22546318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193143326	chr3:22546378-22546379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6550692	chr3:22546382-22546383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79611309	chr3:22546409-22546410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574052661	chr3:22546410-22546411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185630398	chr3:22546478-22546479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556376534	chr3:22546490-22546491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189294255	chr3:22546495-22546496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372756133	chr3:22546500-22546501	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22545400-22546000	Enhancers	Ovary	ovary
2	chr3:22545400-22546800	Enhancers	Fetal Lung	lung
3	chr3:22546800-22548400	Weak transcription	Fetal Lung	lung
4	chr3:22548400-22548600	Enhancers	Fetal Lung	lung
5	chr3:22548600-22549000	Weak transcription	Fetal Lung	lung
6	chr3:22549000-22550400	Enhancers	Fetal Lung	lung
7	chr3:22549600-22550400	Enhancers	Fetal Stomach	stomach
8	chr3:22549800-22550400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:22549800-22550600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:22551200-22551400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:22566600-22568000	Enhancers	Fetal Lung	lung
12	chr3:22568000-22568400	Weak transcription	Fetal Lung	lung
13	chr3:22568400-22569400	Enhancers	Fetal Lung	lung
14	chr3:22575600-22575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:22576000-22577200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:22576800-22577200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:22577200-22579600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:22577600-22578400	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:22578000-22578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:22578200-22579600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:22578600-22579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:22579600-22580400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:22579800-22581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:22580400-22581000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:22581000-22584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:22584800-22585200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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