Variant report

Variant	nsv874918
Chromosome Location	chr2:116098665-116183946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3368 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3368 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546551790	chr2:116099807-116099808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183980812	chr2:116099842-116099843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535599716	chr2:116099869-116099870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555822785	chr2:116099902-116099903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568993118	chr2:116099905-116099906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538021757	chr2:116099996-116099997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557787343	chr2:116100034-116100035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71418557	chr2:116100036-116100037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75782572	chr2:116100048-116100049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186097924	chr2:116100095-116100096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573674363	chr2:116100123-116100124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542396857	chr2:116100146-116100147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562586368	chr2:116100167-116100168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576155791	chr2:116100174-116100175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531036645	chr2:116100195-116100196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191000278	chr2:116100200-116100201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564637468	chr2:116100222-116100223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533402644	chr2:116100258-116100259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546886527	chr2:116100317-116100318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182682435	chr2:116100364-116100365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529235960	chr2:116100365-116100366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549239181	chr2:116100398-116100399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542716398	chr2:116100426-116100427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368945597	chr2:116100466-116100467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543395148	chr2:116100519-116100520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114381189	chr2:116100576-116100577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551513406	chr2:116100577-116100578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187005279	chr2:116100633-116100634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114989821	chr2:116100714-116100715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118025174	chr2:116100720-116100721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573711600	chr2:116100747-116100748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536220379	chr2:116100801-116100802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556002751	chr2:116100805-116100806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114532945	chr2:116100883-116100884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143875152	chr2:116100957-116100958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564386740	chr2:116100959-116100960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577807435	chr2:116100965-116100966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369348869	chr2:116100969-116100970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560392294	chr2:116101019-116101020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561925097	chr2:116101037-116101038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529269874	chr2:116101087-116101088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17823041	chr2:116101097-116101098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562851097	chr2:116101130-116101131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192207003	chr2:116101248-116101249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551579251	chr2:116101289-116101290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115296814	chr2:116101306-116101307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144789897	chr2:116101312-116101313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148261516	chr2:116101321-116101322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533958170	chr2:116101326-116101327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140392040	chr2:116101331-116101332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116099800-116100400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:116100400-116103800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116103800-116104400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:116105200-116114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:116108400-116109000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:116108400-116109000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:116108600-116108800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:116108800-116114400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:116111800-116112200	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:116114400-116115600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr2:116114400-116115600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:116114400-116115800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr2:116114400-116116800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:116114600-116115400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr2:116114800-116115600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:116114800-116115800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:116115000-116115600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:116115000-116115600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr2:116115000-116116800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr2:116115600-116117600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:116115600-116118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:116115600-116118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:116115600-116120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:116115600-116120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:116115800-116116200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:116115800-116117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:116116200-116116600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:116116400-116116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:116116400-116117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:116116600-116116800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:116116800-116117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:116116800-116120400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:116116800-116121000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:116116800-116121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:116117000-116118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:116117600-116118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:116117600-116118200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:116117600-116118600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:116117800-116118400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:116118000-116118800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:116118000-116121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:116118200-116120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:116118400-116118800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:116118400-116121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:116118400-116121000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:116118600-116118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:116118600-116119400	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr2:116118600-116120800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:116118800-116121600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:116118800-116121800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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