Variant report

Variant	nsv961928
Chromosome Location	chr2:212475645-212476827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564029281	chr2:212475648-212475649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs551107554	chr2:212475662-212475663	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577713308	chr2:212475678-212475679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189113919	chr2:212475680-212475681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193043555	chr2:212475692-212475693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369701012	chr2:212475693-212475694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184462504	chr2:212475750-212475751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10177211	chr2:212475771-212475772	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12104855	chr2:212475773-212475774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562161423	chr2:212475840-212475841	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7422055	chr2:212475842-212475843	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527740766	chr2:212475854-212475855	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565857680	chr2:212475888-212475889	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187342230	chr2:212475944-212475945	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114063987	chr2:212475962-212475963	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533145724	chr2:212475969-212475970	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148409577	chr2:212476052-212476053	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569911061	chr2:212476057-212476058	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370474746	chr2:212476121-212476122	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551774403	chr2:212476127-212476128	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144256112	chr2:212476132-212476133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144146067	chr2:212476150-212476151	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs67176990	chr2:212476172-212476173	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565887707	chr2:212476176-212476177	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373273798	chr2:212476185-212476186	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538958138	chr2:212476205-212476206	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191871383	chr2:212476269-212476270	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs60346401	chr2:212476270-212476271	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377727048	chr2:212476280-212476281	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376298132	chr2:212476288-212476289	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183996761	chr2:212476310-212476311	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs149544462	chr2:212476434-212476435	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556708167	chr2:212476447-212476448	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576644876	chr2:212476467-212476468	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542169751	chr2:212476471-212476472	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554396518	chr2:212476491-212476492	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114588869	chr2:212476507-212476508	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189421980	chr2:212476535-212476536	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180978084	chr2:212476585-212476586	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115257209	chr2:212476595-212476596	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184207612	chr2:212476604-212476605	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550121362	chr2:212476660-212476661	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567726947	chr2:212476661-212476662	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190755517	chr2:212476674-212476675	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113209483	chr2:212476677-212476678	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529143982	chr2:212476727-212476728	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549006789	chr2:212476735-212476736	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467200-212480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
3	chr2:212470400-212489600	Weak transcription	Fetal Heart	heart
4	chr2:212473600-212476200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:212474600-212476000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:212475200-212476400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:212475400-212475800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:212475600-212475800	Enhancers	HepG2	liver
9	chr2:212475600-212477400	Flanking Active TSS	Dnd41	blood
10	chr2:212475800-212476200	Active TSS	HepG2	liver
11	chr2:212475800-212476400	Active TSS	Placenta	Placenta
12	chr2:212476000-212476200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:212476000-212476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:212476000-212476400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:212476000-212476400	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:212476000-212476400	Active TSS	Primary T cells from cord blood	blood
17	chr2:212476000-212476400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:212476000-212476400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:212476000-212476600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr2:212476000-212476800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:212476200-212476400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:212476200-212476600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:212476200-212476600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:212476200-212476600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:212476200-212476600	Flanking Active TSS	HepG2	liver
26	chr2:212476200-212476800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:212476200-212476800	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:212476200-212476800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:212476200-212476800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:212476400-212476800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:212476600-212476800	Enhancers	HepG2	liver
32	chr2:212476600-212477000	Enhancers	Primary T helper cells PMA-I stimulated	--

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