Variant report

Variant	nsv589933
Chromosome Location	chr3:22032335-22076137
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Extended variants
information (count: 678 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6790810	chr3:22032335-22032336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17584327	chr3:22032349-22032350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112068842	chr3:22032353-22032354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543527299	chr3:22032404-22032405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558941535	chr3:22032409-22032410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370386932	chr3:22032416-22032417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2133012	chr3:22032422-22032423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540983187	chr3:22032424-22032425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560027765	chr3:22032429-22032430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs207463042	chr3:22032430-22032431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12485290	chr3:22032437-22032438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17010562	chr3:22032454-22032455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80243437	chr3:22032474-22032475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2133011	chr3:22032499-22032500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533167528	chr3:22032566-22032567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142824887	chr3:22032581-22032582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562480895	chr3:22032603-22032604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571267039	chr3:22032609-22032610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532147369	chr3:22032625-22032626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143310212	chr3:22032640-22032641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566391125	chr3:22032655-22032656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148345474	chr3:22032664-22032665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547039819	chr3:22032729-22032730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570131593	chr3:22032746-22032747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537589789	chr3:22032753-22032754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556257684	chr3:22032768-22032769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141541086	chr3:22032791-22032792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184223552	chr3:22032818-22032819	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541044755	chr3:22032823-22032824	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs188848200	chr3:22032852-22032853	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs6550647	chr3:22032858-22032859	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542498233	chr3:22032865-22032866	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs150882189	chr3:22032867-22032868	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs576153215	chr3:22032878-22032879	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs182027554	chr3:22032900-22032901	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs548116586	chr3:22032913-22032914	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564838247	chr3:22032914-22032915	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs375178046	chr3:22032933-22032934	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs568333638	chr3:22032962-22032963	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs547435432	chr3:22032964-22032965	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs559367202	chr3:22032995-22032996	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs186219127	chr3:22033009-22033010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138523362	chr3:22033049-22033050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7652319	chr3:22033071-22033072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575927105	chr3:22033084-22033085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144102528	chr3:22033101-22033102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570635199	chr3:22033115-22033116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7652410	chr3:22033141-22033142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552984422	chr3:22033157-22033158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574484331	chr3:22033166-22033167	Enhancers	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22031800-22033400	Enhancers	Fetal Lung	lung
2	chr3:22032800-22033000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:22032800-22034000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:22034000-22034400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:22034400-22035600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:22036800-22037200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:22045400-22047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:22053400-22053800	Enhancers	Hela-S3	cervix
9	chr3:22053400-22054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:22054000-22055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:22055000-22055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:22055200-22055400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:22055400-22055600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:22055400-22055800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:22055400-22056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:22055800-22056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:22055800-22057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:22056000-22057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:22056000-22057200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:22056400-22056800	Enhancers	Brain Germinal Matrix	brain
21	chr3:22057000-22058000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:22057200-22057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:22057200-22057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:22057600-22058200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:22057600-22058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:22057600-22058400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr3:22057800-22058200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr3:22058200-22058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:22060200-22060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:22067800-22068600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:22072400-22072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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