Variant report

Variant	nsv874236
Chromosome Location	chr2:64154215-64179235
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:2)
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	chr2:64162645..64165591-chr2:64171046..64173038,2	MCF-7	breast:
2	chr2:64178266..64179991-chr2:64182528..64185252,2	K562	blood:
3	chr2:64170689..64173594-chr2:64176755..64179622,2	K562	blood:
4	chr2:64160279..64161972-chr2:64164608..64167275,2	K562	blood:
5	chr2:64162645..64165591-chr2:64171046..64173038,2	MCF-7	breast:
6	chr2:64170689..64173594-chr2:64176755..64179622,2	K562	blood:
7	chr2:64160279..64161972-chr2:64164608..64167275,2	K562	blood:
8	chr2:64174430..64176440-chr2:64194001..64195513,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDPCP-6	chr2:64166988-64167160	NONHSAT071081
2	lnc-WDPCP-6	chr2:64168495-64168884	NONHSAT071081

No data

Extended variants
information (count: 1000 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11125988	chr2:64154215-64154216	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549553831	chr2:64154242-64154243	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186842355	chr2:64154274-64154275	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs545573069	chr2:64154281-64154282	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189675422	chr2:64154333-64154334	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35521527	chr2:64154347-64154348	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539056819	chr2:64154358-64154359	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577549393	chr2:64154381-64154382	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181293324	chr2:64154387-64154388	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542558919	chr2:64154390-64154391	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375661050	chr2:64154396-64154397	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142892502	chr2:64154414-64154415	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572713646	chr2:64154418-64154419	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539920691	chr2:64154435-64154436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564676371	chr2:64154467-64154468	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151035560	chr2:64154480-64154481	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544243101	chr2:64154533-64154534	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562348863	chr2:64154537-64154538	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74680891	chr2:64154539-64154540	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549715172	chr2:64154540-64154541	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567831306	chr2:64154552-64154553	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs185409327	chr2:64154566-64154567	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547099347	chr2:64154570-64154571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs116983275	chr2:64154579-64154580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538650687	chr2:64154593-64154594	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557272661	chr2:64154595-64154596	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569166854	chr2:64154634-64154635	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72808245	chr2:64154635-64154636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554474116	chr2:64154650-64154651	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537564177	chr2:64154718-64154719	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373334256	chr2:64154736-64154737	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376256935	chr2:64154738-64154739	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560666626	chr2:64154785-64154786	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189876090	chr2:64154786-64154787	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114819473	chr2:64154797-64154798	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs114672991	chr2:64154801-64154802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182196546	chr2:64154806-64154807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543982275	chr2:64154808-64154809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562471117	chr2:64154814-64154815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145517133	chr2:64154830-64154831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543320686	chr2:64154853-64154854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs67962955	chr2:64154875-64154876	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553384084	chr2:64154877-64154878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528687619	chr2:64154883-64154884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547261123	chr2:64154914-64154915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565337383	chr2:64154959-64154960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531660527	chr2:64154991-64154992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550809925	chr2:64155000-64155001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551837900	chr2:64155030-64155031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536283215	chr2:64155031-64155032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64129600-64164000	Weak transcription	NHLF	lung
4	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
5	chr2:64130400-64155000	Strong transcription	HepG2	liver
6	chr2:64130400-64167600	Weak transcription	Fetal Heart	heart
7	chr2:64130400-64168400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
9	chr2:64130600-64168000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
11	chr2:64131400-64155000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:64137400-64154800	Strong transcription	Primary B cells from cord blood	blood
13	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:64138600-64168600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:64139000-64168200	Weak transcription	Psoas Muscle	Psoas
16	chr2:64139000-64172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:64139800-64161600	Weak transcription	HSMMtube	muscle
18	chr2:64139800-64167400	Weak transcription	NHEK	skin
19	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:64140600-64154800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:64140600-64172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:64141400-64167800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:64141600-64160400	Weak transcription	HUVEC	blood vessel
28	chr2:64141600-64164400	Weak transcription	Osteobl	bone
29	chr2:64141800-64160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:64142600-64167600	Weak transcription	K562	blood
31	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:64143400-64167800	Weak transcription	GM12878-XiMat	blood
33	chr2:64147600-64159000	Weak transcription	Fetal Kidney	kidney
34	chr2:64147600-64159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:64147600-64159800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:64147600-64178000	Weak transcription	A549	lung
37	chr2:64147800-64160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:64147800-64160400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:64147800-64160400	Weak transcription	NH-A	brain
40	chr2:64148000-64160800	Weak transcription	NHDF-Ad	bronchial
41	chr2:64148000-64164600	Weak transcription	HSMM	muscle
42	chr2:64149800-64167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:64150600-64154600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:64150600-64156600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:64151000-64155000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:64151200-64154600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:64151200-64154800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:64152200-64154600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:64152400-64154600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:64152400-64154800	Strong transcription	Primary hematopoietic stem cells	blood

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