Variant report

Variant	nsv875469
Chromosome Location	chr2:180354642-180396869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180396502..180399490-chr2:180403575..180405915,2	K562	blood:

Extended variants
information (count: 1538 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17747577	chr2:180354642-180354643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184843563	chr2:180354658-180354659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566072552	chr2:180354660-180354661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148643580	chr2:180354681-180354682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141231955	chr2:180355011-180355012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570852702	chr2:180355019-180355020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367551940	chr2:180355043-180355044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143318849	chr2:180355044-180355045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534661579	chr2:180355067-180355068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550346430	chr2:180355069-180355070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570167966	chr2:180355081-180355082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537998305	chr2:180355143-180355144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554765077	chr2:180355157-180355158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139354116	chr2:180355161-180355162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375512682	chr2:180355221-180355222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369800215	chr2:180355233-180355234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568497807	chr2:180355241-180355242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17747613	chr2:180355260-180355261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11686958	chr2:180355308-180355309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs35495263	chr2:180355345-180355346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562523845	chr2:180355346-180355347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398060833	chr2:180355356-180355357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397872831	chr2:180355357-180355358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189744340	chr2:180355419-180355420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549420757	chr2:180355468-180355469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114171024	chr2:180355527-180355528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368451025	chr2:180355531-180355532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543444855	chr2:180355584-180355585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2176467	chr2:180355669-180355670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2367645	chr2:180355724-180355725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372897065	chr2:180355762-180355763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186236230	chr2:180355765-180355766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562328048	chr2:180355937-180355938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79638723	chr2:180355940-180355941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539754092	chr2:180355949-180355950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189690159	chr2:180355977-180355978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146527999	chr2:180356039-180356040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550209758	chr2:180356077-180356078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570130824	chr2:180356124-180356125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73973293	chr2:180356132-180356133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573089548	chr2:180356133-180356134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149778442	chr2:180356211-180356212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541501699	chr2:180356273-180356274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568282925	chr2:180356281-180356282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181964748	chr2:180356284-180356285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561708138	chr2:180356349-180356350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575271954	chr2:180356398-180356399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186188391	chr2:180356410-180356411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547714380	chr2:180356425-180356426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112504986	chr2:180356426-180356427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180350200-180357800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:180350400-180355200	Weak transcription	Right Atrium	heart
3	chr2:180350600-180367200	Weak transcription	Liver	Liver
4	chr2:180352400-180360200	Weak transcription	Gastric	stomach
5	chr2:180352600-180360600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:180352800-180378400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:180357800-180358400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180358400-180367800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:180360200-180360400	Enhancers	Gastric	stomach
10	chr2:180360400-180361000	Weak transcription	Gastric	stomach
11	chr2:180365600-180369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:180367200-180368200	Strong transcription	Liver	Liver
13	chr2:180367800-180368000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:180368000-180375400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:180368200-180375600	Weak transcription	Liver	Liver
16	chr2:180370800-180392800	Weak transcription	Psoas Muscle	Psoas
17	chr2:180374800-180377200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:180375400-180377400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:180375600-180376000	Enhancers	Fetal Brain Male	brain
20	chr2:180375600-180381400	Strong transcription	Liver	Liver
21	chr2:180375800-180376000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:180376000-180377200	Weak transcription	Fetal Brain Male	brain
23	chr2:180376000-180378800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:180376200-180378400	Enhancers	Fetal Brain Female	brain
25	chr2:180377200-180378200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:180377200-180378400	Enhancers	Fetal Brain Male	brain
27	chr2:180377200-180378600	Enhancers	Fetal Intestine Large	intestine
28	chr2:180377200-180379000	Enhancers	Fetal Intestine Small	intestine
29	chr2:180377400-180378400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:180377400-180378400	Enhancers	Brain Germinal Matrix	brain
31	chr2:180378000-180378200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:180378200-180378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:180378200-180381400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:180378400-180378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:180378400-180379000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:180378600-180379600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:180378800-180379000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:180378800-180379000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:180378800-180379000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr2:180379000-180390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:180379200-180383000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:180379600-180383600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:180381400-180386400	Weak transcription	Liver	Liver
44	chr2:180381600-180382200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:180381600-180382600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:180381800-180382000	Enhancers	HepG2	liver
47	chr2:180381800-180382200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:180382000-180383200	Weak transcription	HepG2	liver
49	chr2:180383000-180383400	Enhancers	Fetal Intestine Small	intestine
50	chr2:180383000-180383800	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links