Variant report

Variant	nsv963897
Chromosome Location	chr2:116230681-116241292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 440 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1712002	chr2:116230685-116230686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543736042	chr2:116230724-116230725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552631263	chr2:116230739-116230740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566342984	chr2:116230766-116230767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72842230	chr2:116230768-116230769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144913167	chr2:116230784-116230785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182894274	chr2:116230861-116230862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529733161	chr2:116230909-116230910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187431606	chr2:116231008-116231009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10496492	chr2:116231075-116231076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556749926	chr2:116231135-116231136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576997761	chr2:116231150-116231151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545956746	chr2:116231165-116231166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539783575	chr2:116231167-116231168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559433671	chr2:116231169-116231170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1375147	chr2:116231198-116231199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79753677	chr2:116231254-116231255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1375146	chr2:116231302-116231303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547617524	chr2:116231307-116231308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530645340	chr2:116231313-116231314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149054634	chr2:116231396-116231397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369473082	chr2:116231398-116231399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193001883	chr2:116231401-116231402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6542263	chr2:116231402-116231403	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142127480	chr2:116231403-116231404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539757650	chr2:116231407-116231408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566286269	chr2:116231473-116231474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535275372	chr2:116231571-116231572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548196894	chr2:116231614-116231615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568077445	chr2:116231618-116231619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74780536	chr2:116231620-116231621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557060633	chr2:116231636-116231637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377155872	chr2:116231642-116231643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539295384	chr2:116231676-116231677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535546721	chr2:116231698-116231699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67230052	chr2:116231754-116231755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397733198	chr2:116231757-116231758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78472641	chr2:116231758-116231759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11123306	chr2:116231781-116231782	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183942748	chr2:116231801-116231802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35123389	chr2:116231819-116231820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535444209	chr2:116231822-116231823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542117938	chr2:116231830-116231831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555359234	chr2:116231845-116231846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561682933	chr2:116231868-116231869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151174480	chr2:116231934-116231935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141297678	chr2:116231935-116231936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189060696	chr2:116231973-116231974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146986046	chr2:116231986-116231987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1448460	chr2:116232024-116232025	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116219800-116232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:116224400-116232200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116229600-116230800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:116231200-116232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:116231400-116236600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:116231600-116232400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:116232200-116233200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr2:116232200-116233400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:116232200-116233400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr2:116232200-116234400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:116232400-116233200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr2:116232400-116233200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:116232400-116233400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr2:116232400-116233400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:116232400-116233400	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:116232400-116233600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr2:116232400-116234400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr2:116233400-116235800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:116236600-116241000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:116237400-116237600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:116237600-116249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:116239200-116246800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:116241000-116241600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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