Variant report

Variant	nsv979395
Chromosome Location	chr2:209899871-209910176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDH1-4	chr2:209907730-209907770	NONHSAT076653

Extended variants
information (count: 117 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561448597	chr2:209901201-209901202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565468054	chr2:209901202-209901203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147288009	chr2:209901214-209901215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544381926	chr2:209901268-209901269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561389906	chr2:209901280-209901281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186275526	chr2:209901293-209901294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34920888	chr2:209901358-209901359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369331543	chr2:209901377-209901378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372069695	chr2:209901407-209901408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113050997	chr2:209901420-209901421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559259406	chr2:209901455-209901456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528363119	chr2:209901487-209901488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551211356	chr2:209901523-209901524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571358256	chr2:209901544-209901545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547895423	chr2:209901545-209901546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141024222	chr2:209901547-209901548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548779171	chr2:209901588-209901589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566924085	chr2:209901590-209901591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144898104	chr2:209901599-209901600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567327763	chr2:209901620-209901621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191612316	chr2:209901664-209901665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552989096	chr2:209901702-209901703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144450212	chr2:209901712-209901713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35538078	chr2:209901737-209901738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148398723	chr2:209901749-209901750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142578499	chr2:209901778-209901779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115674527	chr2:209901789-209901790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1522180	chr2:209901853-209901854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113070497	chr2:209901879-209901880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369646345	chr2:209901880-209901881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574862870	chr2:209901881-209901882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540274059	chr2:209901883-209901884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570899863	chr2:209901937-209901938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560113320	chr2:209901972-209901973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201821021	chr2:209902087-209902088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62940160	chr2:209902088-209902089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71041336	chr2:209902119-209902120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375644476	chr2:209902120-209902121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75030304	chr2:209902150-209902151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180808696	chr2:209902157-209902158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565154076	chr2:209902174-209902175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184922425	chr2:209902240-209902241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189794172	chr2:209902390-209902391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183112738	chr2:209902428-209902429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370018996	chr2:209902439-209902440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187612666	chr2:209902477-209902478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567283251	chr2:209902486-209902487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536343804	chr2:209902507-209902508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191493419	chr2:209902608-209902609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556552833	chr2:209902674-209902675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209901200-209902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:209901400-209901800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:209901400-209901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:209901400-209901800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:209901400-209902000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:209901400-209902000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:209902000-209904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:209904400-209904600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:209908800-209909200	Enhancers	Pancreatic Islets	Pancreatic Islet

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