Variant report

Variant	nsv1008552
Chromosome Location	chr3:22356232-22368600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 422 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570954435	chr3:22360008-22360009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552265546	chr3:22360023-22360024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570567624	chr3:22360033-22360034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370200103	chr3:22360037-22360038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528577308	chr3:22360051-22360052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190171884	chr3:22360088-22360089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17011204	chr3:22360104-22360105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536175450	chr3:22360114-22360115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558333268	chr3:22360134-22360135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144649012	chr3:22360170-22360171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181681210	chr3:22360175-22360176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111699219	chr3:22360183-22360184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563976605	chr3:22360184-22360185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565833975	chr3:22360201-22360202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557783604	chr3:22360235-22360236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572931240	chr3:22360258-22360259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76177242	chr3:22360274-22360275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376443279	chr3:22360280-22360281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573724380	chr3:22360324-22360325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565852351	chr3:22360351-22360352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186171948	chr3:22360363-22360364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534921558	chr3:22360369-22360370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544117396	chr3:22360407-22360408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562404944	chr3:22360445-22360446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190494813	chr3:22360458-22360459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372111282	chr3:22360503-22360504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564314531	chr3:22360520-22360521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113131942	chr3:22360563-22360564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546757258	chr3:22360576-22360577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568661652	chr3:22360585-22360586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12497224	chr3:22360628-22360629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551298027	chr3:22360663-22360664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569616433	chr3:22360746-22360747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540127887	chr3:22360747-22360748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557818241	chr3:22360752-22360753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566320624	chr3:22360758-22360759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143792009	chr3:22360773-22360774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536191024	chr3:22360862-22360863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555133494	chr3:22360905-22360906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573790642	chr3:22360915-22360916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543958382	chr3:22360922-22360923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11129050	chr3:22360972-22360973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537069506	chr3:22360977-22360978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184068297	chr3:22360998-22360999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564533707	chr3:22361022-22361023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573128684	chr3:22361037-22361038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147245905	chr3:22361043-22361044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561993437	chr3:22361046-22361047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189178962	chr3:22361053-22361054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533767732	chr3:22361062-22361063	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22360000-22361200	Enhancers	Fetal Lung	lung
2	chr3:22360200-22360600	Enhancers	Liver	Liver
3	chr3:22360400-22361600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:22360800-22361200	Enhancers	Liver	Liver
5	chr3:22361200-22361600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:22361200-22368000	Weak transcription	Fetal Lung	lung
7	chr3:22364200-22365000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:22364200-22365000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:22364200-22365000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:22364200-22365000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:22364200-22365000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:22364200-22365400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:22364400-22364800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:22364400-22365000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:22364400-22365000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:22364600-22365000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:22364600-22365000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:22364600-22365000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:22364600-22365000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:22365000-22367200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:22365000-22367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:22367600-22368200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:22368000-22368600	Enhancers	Fetal Lung	lung
24	chr3:22368200-22374600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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