Variant report

Variant	nsv963511
Chromosome Location	chr3:22056652-22074547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
2	chr3:22051906..22054873-chr3:22056499..22059265,2	K562	blood:
3	chr3:22056493..22058211-chr3:22060114..22061974,2	K562	blood:
4	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
5	chr3:22042480..22044020-chr3:22057123..22059814,2	K562	blood:
6	chr3:22056493..22058211-chr3:22060114..22061974,2	K562	blood:

Extended variants
information (count: 214 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551246909	chr3:22056669-22056670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374806974	chr3:22056715-22056716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74948542	chr3:22056727-22056728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1842313	chr3:22056745-22056746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566833320	chr3:22056748-22056749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534232297	chr3:22056756-22056757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549099985	chr3:22056770-22056771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550504634	chr3:22056776-22056777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568390052	chr3:22056825-22056826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535366564	chr3:22056833-22056834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556801054	chr3:22056872-22056873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563664925	chr3:22056874-22056875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575116551	chr3:22056876-22056877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368615984	chr3:22056904-22056905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539222085	chr3:22056905-22056906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557866196	chr3:22056907-22056908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs958302	chr3:22056940-22056941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183357633	chr3:22056957-22056958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186947734	chr3:22056958-22056959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374455112	chr3:22056989-22056990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1351327	chr3:22056992-22056993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544937685	chr3:22057012-22057013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563148554	chr3:22057041-22057042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533595710	chr3:22057058-22057059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559225673	chr3:22057078-22057079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566073288	chr3:22057110-22057111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145058316	chr3:22057132-22057133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190491	chr3:22057142-22057143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376026662	chr3:22057148-22057149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527782910	chr3:22057167-22057168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371855865	chr3:22057172-22057173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191260574	chr3:22057194-22057195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7634554	chr3:22057196-22057197	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529794921	chr3:22057199-22057200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184891576	chr3:22057201-22057202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370000748	chr3:22057208-22057209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550487456	chr3:22057212-22057213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs259432	chr3:22057218-22057219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539285048	chr3:22057233-22057234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13082428	chr3:22057241-22057242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566613816	chr3:22057242-22057243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116242301	chr3:22057250-22057251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7620894	chr3:22057256-22057257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113830974	chr3:22057259-22057260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373950752	chr3:22057272-22057273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573703054	chr3:22057281-22057282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544206223	chr3:22057288-22057289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575965536	chr3:22057306-22057307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149118422	chr3:22057334-22057335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77999340	chr3:22057359-22057360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22055800-22057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:22056000-22057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:22056000-22057200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:22056400-22056800	Enhancers	Brain Germinal Matrix	brain
5	chr3:22057000-22058000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:22057200-22057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:22057200-22057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:22057600-22058200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:22057600-22058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:22057600-22058400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:22057800-22058200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:22058200-22058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:22060200-22060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:22067800-22068600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:22072400-22072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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