Variant report

Variant	nsv876618
Chromosome Location	chr3:22005074-22057218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

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

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-2	chr3:22021123-22021320	ENSG00000223351
2	lnc-UBE2E2-2	chr3:22019707-22019783	ENSG00000223351

No data

Extended variants
information (count: 1065 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs259569	chr3:22005074-22005075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531705516	chr3:22005084-22005085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs259570	chr3:22005087-22005088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11129035	chr3:22005130-22005131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533190386	chr3:22005151-22005152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181395806	chr3:22005175-22005176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368397816	chr3:22005185-22005186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77264645	chr3:22005205-22005206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577685695	chr3:22005243-22005244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554661551	chr3:22005290-22005291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12487974	chr3:22005305-22005306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144795553	chr3:22005345-22005346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545529783	chr3:22005349-22005350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537813305	chr3:22005358-22005359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553978360	chr3:22005361-22005362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573983260	chr3:22005386-22005387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542960204	chr3:22005411-22005412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556470756	chr3:22005488-22005489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190777561	chr3:22005521-22005522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538889964	chr3:22005522-22005523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553935111	chr3:22005529-22005530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113027519	chr3:22005544-22005545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180889519	chr3:22005550-22005551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs259571	chr3:22005565-22005566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576396610	chr3:22005621-22005622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75406866	chr3:22005694-22005695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562821253	chr3:22005733-22005734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533257496	chr3:22005736-22005737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186213868	chr3:22005747-22005748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545284194	chr3:22005750-22005751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190683677	chr3:22005761-22005762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs259572	chr3:22005780-22005781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147018174	chr3:22005812-22005813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386396115	chr3:22005815-22005816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183439520	chr3:22005819-22005820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372048779	chr3:22005821-22005822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548818454	chr3:22005822-22005823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111743848	chr3:22005839-22005840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376855859	chr3:22005903-22005904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576699708	chr3:22005921-22005922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537060690	chr3:22005922-22005923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60635259	chr3:22005924-22005925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369256530	chr3:22005925-22005926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145397362	chr3:22005926-22005927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531236389	chr3:22005936-22005937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572948482	chr3:22005937-22005938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6779056	chr3:22005939-22005940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377650103	chr3:22005963-22005964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371524674	chr3:22005976-22005977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374176040	chr3:22005978-22005979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22004400-22009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:22009600-22010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:22012800-22013000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:22019600-22019800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:22019800-22020400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:22020400-22022000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:22020800-22021800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:22021000-22021800	Enhancers	NH-A	brain
9	chr3:22021400-22021800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:22031200-22031600	Enhancers	Fetal Heart	heart
11	chr3:22031800-22033400	Enhancers	Fetal Lung	lung
12	chr3:22032800-22033000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:22032800-22034000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:22034000-22034400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:22034400-22035600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:22036800-22037200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:22045400-22047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:22053400-22053800	Enhancers	Hela-S3	cervix
19	chr3:22053400-22054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:22054000-22055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:22055000-22055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:22055200-22055400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr3:22055400-22055600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:22055400-22055800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:22055400-22056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:22055800-22056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:22055800-22057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:22056000-22057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:22056000-22057200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:22056400-22056800	Enhancers	Brain Germinal Matrix	brain
31	chr3:22057000-22058000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:22057200-22057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:22057200-22057600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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