Variant report

Variant	nsv876683
Chromosome Location	chr3:34451940-34536095
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:5)
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	chr3:34461910..34463582-chr3:34464111..34466854,2	K562	blood:
2	chr3:34461910..34463582-chr3:34464111..34466854,2	K562	blood:
3	chr3:34325094..34326771-chr3:34500714..34502668,2	K562	blood:
4	chr3:34462063..34464661-chr3:34482246..34484310,2	K562	blood:
5	chr3:34462063..34464661-chr3:34482246..34484310,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDCD6IP-2	chr3:34476785-34477097	XLOC_002612
2	lnc-PDCD6IP-2	chr3:34476785-34477124	XLOC_002612
3	lnc-PDCD6IP-2	chr3:34476785-34476954	XLOC_002612
4	lnc-PDCD6IP-2	chr3:34476785-34476954	XLOC_002612
5	lnc-PDCD6IP-5	chr3:34451789-34452128	l_2344_chr3:34377232-34452128_testes

No data

Variant related genes	Relation type
PTK2	miRNA target sites
CLASP1	miRNA target sites

Extended variants
information (count: 1233 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534673	chr3:34451940-34451941	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9858078	chr3:34452007-34452008	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370164225	chr3:34452012-34452013	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs575100797	chr3:34452076-34452077	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs371675272	chr3:34452088-34452089	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs542413563	chr3:34452091-34452092	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs185045081	chr3:34452140-34452141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188195030	chr3:34452166-34452167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181790544	chr3:34452209-34452210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141559063	chr3:34452235-34452236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146385134	chr3:34452252-34452253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60339998	chr3:34452277-34452278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539233330	chr3:34452328-34452329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373874085	chr3:34452340-34452341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60406539	chr3:34452380-34452381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367691683	chr3:34452399-34452400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1317104	chr3:34452402-34452403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566599047	chr3:34452454-34452455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533645097	chr3:34452455-34452456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139790486	chr3:34452467-34452468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35318328	chr3:34452484-34452485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375315047	chr3:34452516-34452517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566445331	chr3:34452692-34452693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186329645	chr3:34452697-34452698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376911676	chr3:34452701-34452702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570470949	chr3:34452746-34452747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115650391	chr3:34452764-34452765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192436467	chr3:34452773-34452774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373889665	chr3:34452794-34452795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542443562	chr3:34452847-34452848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554064801	chr3:34452866-34452867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572549207	chr3:34452929-34452930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113669314	chr3:34452961-34452962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183334212	chr3:34452962-34452963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541672340	chr3:34452973-34452974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531614382	chr3:34452984-34452985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368521408	chr3:34453001-34453002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543386924	chr3:34453029-34453030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562474281	chr3:34453032-34453033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574884797	chr3:34453033-34453034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139767182	chr3:34453042-34453043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372243477	chr3:34453056-34453057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187153662	chr3:34453097-34453098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191136314	chr3:34453205-34453206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182699462	chr3:34453222-34453223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542978095	chr3:34453268-34453269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557548048	chr3:34453318-34453319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186599797	chr3:34453423-34453424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570532703	chr3:34453447-34453448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78354616	chr3:34453496-34453497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34450600-34452200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:34452200-34453600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:34453800-34454000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:34460200-34460600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr3:34460200-34460800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr3:34460200-34461000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:34460200-34461000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:34460600-34460800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:34460600-34461400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:34462800-34463600	Enhancers	Fetal Heart	heart
11	chr3:34462800-34464200	Enhancers	HUVEC	blood vessel
12	chr3:34463200-34463600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:34463600-34464000	Flanking Active TSS	Fetal Heart	heart
14	chr3:34464000-34464600	Enhancers	Fetal Heart	heart
15	chr3:34476600-34477000	Enhancers	Thymus	Thymus
16	chr3:34498400-34498800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:34498400-34499000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:34498600-34499000	ZNF genes & repeats	Aorta	Aorta
19	chr3:34499000-34501600	Weak transcription	Aorta	Aorta
20	chr3:34501600-34502000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:34501600-34502400	ZNF genes & repeats	Aorta	Aorta
22	chr3:34505200-34506400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:34506000-34507200	Enhancers	Fetal Brain Male	brain
24	chr3:34513000-34513600	Enhancers	Thymus	Thymus
25	chr3:34513600-34517200	Weak transcription	Thymus	Thymus
26	chr3:34515000-34515200	Weak transcription	Dnd41	blood
27	chr3:34517200-34517400	Enhancers	Thymus	Thymus
28	chr3:34517200-34518200	Enhancers	Dnd41	blood
29	chr3:34517200-34518600	Enhancers	Fetal Thymus	thymus
30	chr3:34517400-34517600	ZNF genes & repeats	Aorta	Aorta
31	chr3:34517400-34518600	Flanking Active TSS	Thymus	Thymus
32	chr3:34517600-34519000	Weak transcription	Aorta	Aorta
33	chr3:34518600-34519600	Active TSS	Thymus	Thymus
34	chr3:34519600-34520400	Weak transcription	Thymus	Thymus
35	chr3:34520400-34520600	Enhancers	Thymus	Thymus
36	chr3:34524000-34524800	Weak transcription	Aorta	Aorta
37	chr3:34524400-34524800	Enhancers	Dnd41	blood
38	chr3:34524800-34525200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:34524800-34525200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr3:34524800-34525200	Active TSS	A549	lung
41	chr3:34524800-34525400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:34524800-34525400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:34524800-34525400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:34524800-34525400	Active TSS	Aorta	Aorta
45	chr3:34524800-34525600	Active TSS	Primary T cells from cord blood	blood
46	chr3:34524800-34525600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr3:34524800-34525800	Flanking Active TSS	Dnd41	blood
48	chr3:34525000-34525200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:34525000-34525400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:34525000-34525400	Active TSS	Primary T cells fromperipheralblood	blood

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