Variant report

Variant	nsv876619
Chromosome Location	chr3:22042511-22110442
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:
6	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
7	chr3:22056493..22058211-chr3:22060114..22061974,2	K562	blood:
8	chr3:22051906..22054873-chr3:22056499..22059265,2	K562	blood:
9	chr3:22060147..22061903-chr3:22064159..22066026,2	K562	blood:
10	chr3:22090916..22093719-chr3:22096309..22098471,5	MCF-7	breast:

No data

Extended variants
information (count: 664 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:664 , 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	rs574627947	chr3:22045434-22045435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35328334	chr3:22045445-22045446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548217044	chr3:22045470-22045471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569711764	chr3:22045476-22045477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34867083	chr3:22045554-22045555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550066202	chr3:22045567-22045568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563828543	chr3:22045579-22045580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71312020	chr3:22045585-22045586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538857431	chr3:22045597-22045598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577373119	chr3:22045621-22045622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376714961	chr3:22045686-22045687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572214451	chr3:22045698-22045699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114821119	chr3:22045699-22045700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35636257	chr3:22045705-22045706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576119552	chr3:22045724-22045725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190631837	chr3:22045732-22045733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4527404	chr3:22045738-22045739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143942381	chr3:22045769-22045770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541642273	chr3:22045771-22045772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559510655	chr3:22045779-22045780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530179214	chr3:22045802-22045803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13062869	chr3:22045810-22045811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35422920	chr3:22045834-22045835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563400144	chr3:22045853-22045854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530957983	chr3:22045865-22045866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34800993	chr3:22045870-22045871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552267312	chr3:22045925-22045926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146423104	chr3:22045926-22045927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530957688	chr3:22045938-22045939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547660871	chr3:22045950-22045951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565887261	chr3:22045959-22045960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536414329	chr3:22046025-22046026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140831539	chr3:22046055-22046056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569737174	chr3:22046058-22046059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548174016	chr3:22046087-22046088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77727856	chr3:22046091-22046092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148210538	chr3:22046092-22046093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577506374	chr3:22046165-22046166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115596281	chr3:22046185-22046186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553203146	chr3:22046191-22046192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73048166	chr3:22046194-22046195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538478702	chr3:22046211-22046212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187688935	chr3:22046230-22046231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563471259	chr3:22046231-22046232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530894725	chr3:22046245-22046246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6784430	chr3:22046247-22046248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564322607	chr3:22046261-22046262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75849787	chr3:22046287-22046288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1679250	chr3:22046297-22046298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1694019	chr3:22046301-22046302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22045400-22047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:22053400-22053800	Enhancers	Hela-S3	cervix
3	chr3:22053400-22054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:22054000-22055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:22055000-22055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:22055200-22055400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:22055400-22055600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:22055400-22055800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:22055400-22056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:22055800-22056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:22055800-22057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:22056000-22057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:22056000-22057200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:22056400-22056800	Enhancers	Brain Germinal Matrix	brain
15	chr3:22057000-22058000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:22057200-22057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:22057200-22057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:22057600-22058200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:22057600-22058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:22057600-22058400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:22057800-22058200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr3:22058200-22058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:22060200-22060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:22067800-22068600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:22072400-22072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:22079800-22081800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:22087400-22087800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:22087400-22087800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:22087400-22088200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:22088000-22088200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:22089400-22089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:22106800-22107000	Enhancers	Pancreatic Islets	Pancreatic Islet

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