Variant report

Variant	nsv875468
Chromosome Location	chr2:180352334-180396869
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: 1617 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17747468	chr2:180352334-180352335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371178941	chr2:180352403-180352404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147089517	chr2:180352411-180352412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566989715	chr2:180352431-180352432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539312378	chr2:180352437-180352438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558872452	chr2:180352465-180352466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74902147	chr2:180352471-180352472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73973292	chr2:180352474-180352475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138514485	chr2:180352475-180352476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554560140	chr2:180352520-180352521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116497936	chr2:180352546-180352547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540398394	chr2:180352592-180352593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553116413	chr2:180352594-180352595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371365677	chr2:180352599-180352600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572993893	chr2:180352648-180352649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538931661	chr2:180352675-180352676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545282768	chr2:180352690-180352691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369997156	chr2:180352709-180352710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6708300	chr2:180352726-180352727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs565906861	chr2:180352731-180352732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535132933	chr2:180352765-180352766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572123646	chr2:180352815-180352816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554722868	chr2:180352879-180352880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544192472	chr2:180352884-180352885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560887573	chr2:180352930-180352931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529782212	chr2:180352959-180352960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144082419	chr2:180352994-180352995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536378467	chr2:180352997-180352998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13418388	chr2:180353004-180353005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532550509	chr2:180353028-180353029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552365902	chr2:180353097-180353098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569175934	chr2:180353148-180353149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190405831	chr2:180353162-180353163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574575561	chr2:180353163-180353164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568394590	chr2:180353246-180353247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182646641	chr2:180353350-180353351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188123600	chr2:180353351-180353352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543296712	chr2:180353352-180353353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192401299	chr2:180353365-180353366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17747516	chr2:180353392-180353393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558800471	chr2:180353434-180353435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373712661	chr2:180353443-180353444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75885912	chr2:180353494-180353495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544544530	chr2:180353542-180353543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560930896	chr2:180353544-180353545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184256611	chr2:180353547-180353548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540226758	chr2:180353579-180353580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188815010	chr2:180353636-180353637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577241032	chr2:180353650-180353651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74482318	chr2:180353708-180353709	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180332800-180352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180349600-180353000	Enhancers	Fetal Heart	heart
3	chr2:180350200-180357800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:180350400-180352600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:180350400-180355200	Weak transcription	Right Atrium	heart
6	chr2:180350600-180367200	Weak transcription	Liver	Liver
7	chr2:180351400-180352400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:180351400-180352600	Enhancers	Fetal Intestine Large	intestine
9	chr2:180351400-180352600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:180351800-180352400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:180351800-180352600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:180351800-180352600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:180352000-180352400	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:180352000-180352400	Enhancers	Psoas Muscle	Psoas
15	chr2:180352200-180352400	Enhancers	Gastric	stomach
16	chr2:180352200-180352800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:180352400-180352600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:180352400-180360200	Weak transcription	Gastric	stomach
19	chr2:180352600-180353600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:180352600-180360600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:180352800-180378400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:180353800-180354000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:180357800-180358400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:180358400-180367800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:180360200-180360400	Enhancers	Gastric	stomach
26	chr2:180360400-180361000	Weak transcription	Gastric	stomach
27	chr2:180365600-180369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:180367200-180368200	Strong transcription	Liver	Liver
29	chr2:180367800-180368000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:180368000-180375400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:180368200-180375600	Weak transcription	Liver	Liver
32	chr2:180370800-180392800	Weak transcription	Psoas Muscle	Psoas
33	chr2:180374800-180377200	Weak transcription	Fetal Intestine Small	intestine
34	chr2:180375400-180377400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:180375600-180376000	Enhancers	Fetal Brain Male	brain
36	chr2:180375600-180381400	Strong transcription	Liver	Liver
37	chr2:180375800-180376000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:180376000-180377200	Weak transcription	Fetal Brain Male	brain
39	chr2:180376000-180378800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:180376200-180378400	Enhancers	Fetal Brain Female	brain
41	chr2:180377200-180378200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:180377200-180378400	Enhancers	Fetal Brain Male	brain
43	chr2:180377200-180378600	Enhancers	Fetal Intestine Large	intestine
44	chr2:180377200-180379000	Enhancers	Fetal Intestine Small	intestine
45	chr2:180377400-180378400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:180377400-180378400	Enhancers	Brain Germinal Matrix	brain
47	chr2:180378000-180378200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:180378200-180378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:180378200-180381400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:180378400-180378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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