Variant report

Variant	nsv874905
Chromosome Location	chr2:114912069-114976978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114926346..114927947-chr2:114929131..114931475,2	K562	blood:
2	chr2:114939549..114941920-chr2:114942600..114945174,2	MCF-7	breast:
3	chr2:114939549..114941920-chr2:114942600..114945174,2	MCF-7	breast:
4	chr2:114735196..114736318-chr2:114959110..114959760,3	MCF-7	breast:
5	chr2:114898363..114900991-chr2:114928789..114930816,2	K562	blood:
6	chr1:242680127..242681627-chr2:114917951..114919998,2	K562	blood:
7	chr2:114926346..114927947-chr2:114929131..114931475,2	K562	blood:

Extended variants
information (count: 747 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543648398	chr2:114913603-114913604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6740983	chr2:114913608-114913609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532102134	chr2:114913616-114913617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545376142	chr2:114913669-114913670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556156688	chr2:114913709-114913710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76821922	chr2:114913737-114913738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528343341	chr2:114913739-114913740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373749049	chr2:114913750-114913751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548199529	chr2:114913770-114913771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6723481	chr2:114913831-114913832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149602435	chr2:114913852-114913853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550823154	chr2:114913867-114913868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143336686	chr2:114913870-114913871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567853142	chr2:114913874-114913875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369532024	chr2:114913947-114913948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188379438	chr2:114913961-114913962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565942235	chr2:114914006-114914007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535282582	chr2:114914106-114914107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554955478	chr2:114914181-114914182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17048174	chr2:114914192-114914193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191752472	chr2:114914195-114914196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555018292	chr2:114915602-114915603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370679510	chr2:114915603-114915604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375071496	chr2:114915606-114915607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188279058	chr2:114915674-114915675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17048180	chr2:114915686-114915687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150524395	chr2:114915790-114915791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372625062	chr2:114915829-114915830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76708684	chr2:114915852-114915853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75212738	chr2:114915877-114915878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72958301	chr2:114915945-114915946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149702845	chr2:114916017-114916018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561889353	chr2:114916068-114916069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145556206	chr2:114916111-114916112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180686821	chr2:114916193-114916194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570797161	chr2:114916232-114916233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67413018	chr2:114916233-114916234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185369686	chr2:114916260-114916261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548845681	chr2:114916290-114916291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546851148	chr2:114916389-114916390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190130262	chr2:114916414-114916415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570670044	chr2:114916460-114916461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535163996	chr2:114916461-114916462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114761886	chr2:114916468-114916469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556856116	chr2:114916498-114916499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182775632	chr2:114916547-114916548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186687637	chr2:114916576-114916577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112346665	chr2:114916594-114916595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577823431	chr2:114916608-114916609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372172433	chr2:114916666-114916667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Chronic lymphocytic leukemia	21546498	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114913600-114914200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:114914000-114914200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114915600-114918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:114916200-114919400	Enhancers	Liver	Liver
5	chr2:114917400-114919000	Weak transcription	Aorta	Aorta
6	chr2:114917600-114918800	Enhancers	HepG2	liver
7	chr2:114917800-114918400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:114917800-114918600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:114917800-114919200	Enhancers	Adipose Nuclei	Adipose
10	chr2:114919000-114919200	Enhancers	Aorta	Aorta
11	chr2:114929600-114929800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:114929600-114930000	Enhancers	Brain Germinal Matrix	brain
13	chr2:114929800-114930000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114943800-114944600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:114944000-114947400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:114947400-114951200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:114951200-114951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:114951200-114951800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:114951200-114952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:114970600-114971400	Enhancers	Fetal Lung	lung
21	chr2:114970800-114971200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:114971400-114975800	Weak transcription	Fetal Lung	lung
23	chr2:114975000-114980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:114975800-114977400	Enhancers	Fetal Lung	lung
25	chr2:114976000-114976400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:114976000-114976400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:114976000-114976600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:114976000-114976600	Enhancers	Fetal Muscle Leg	muscle
29	chr2:114976200-114976600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:114976600-114977000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:114976600-114979400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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