Variant report

Variant	nsv516299
Chromosome Location	chr2:210133260-210143298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 376 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2197594	chr2:210133260-210133261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539353983	chr2:210133281-210133282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16842735	chr2:210133335-210133336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114752898	chr2:210133368-210133369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555527032	chr2:210133431-210133432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151330321	chr2:210133446-210133447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16842736	chr2:210133467-210133468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191125616	chr2:210133635-210133636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183671144	chr2:210133668-210133669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530534080	chr2:210133700-210133701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543455248	chr2:210133727-210133728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140704752	chr2:210133777-210133778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76919362	chr2:210133796-210133797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79221463	chr2:210133884-210133885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368103018	chr2:210133913-210133914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189224282	chr2:210133937-210133938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115123344	chr2:210134003-210134004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545248182	chr2:210134030-210134031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75429033	chr2:210134170-210134171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533129704	chr2:210134209-210134210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144007144	chr2:210134253-210134254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563379266	chr2:210134261-210134262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529339311	chr2:210134279-210134280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549115859	chr2:210134284-210134285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10181546	chr2:210134290-210134291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371395632	chr2:210134430-210134431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534912616	chr2:210134484-210134485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561427043	chr2:210134505-210134506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10181772	chr2:210134539-210134540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181977593	chr2:210134540-210134541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13403418	chr2:210134664-210134665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547890600	chr2:210134665-210134666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556979210	chr2:210134671-210134672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184286904	chr2:210134713-210134714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138420114	chr2:210134747-210134748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552796539	chr2:210134765-210134766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572959597	chr2:210134829-210134830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112159769	chr2:210134848-210134849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373454408	chr2:210134880-210134881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565118308	chr2:210134917-210134918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190160712	chr2:210134947-210134948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143537288	chr2:210134952-210134953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544783904	chr2:210135004-210135005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563342056	chr2:210135010-210135011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529255897	chr2:210135068-210135069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2084214	chr2:210135082-210135083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567786463	chr2:210135108-210135109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377501700	chr2:210135209-210135210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181370558	chr2:210135235-210135236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551660017	chr2:210135238-210135239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210126800-210142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:210133600-210134000	Enhancers	Pancreas	Pancrea
3	chr2:210137400-210138000	Enhancers	Brain Germinal Matrix	brain
4	chr2:210142000-210143600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:210142200-210143000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:210142200-210143400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:210142200-210143600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:210142200-210143800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:210142400-210143400	Enhancers	HUES64 Cell Line	embryonic stem cell

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