Variant report

Variant	nsv946521
Chromosome Location	chr1:179153204-179156392
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	chr1:179138923..179140976-chr1:179155804..179157693,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547729251	chr1:179153243-179153244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28914476	chr1:179153262-179153263	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551222287	chr1:179153274-179153275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147994840	chr1:179153298-179153299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28914475	chr1:179153313-179153314	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182713149	chr1:179153401-179153402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539611865	chr1:179153423-179153424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553410263	chr1:179153431-179153432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550477319	chr1:179153482-179153483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566820567	chr1:179153492-179153493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187521524	chr1:179153504-179153505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555440020	chr1:179153525-179153526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192466223	chr1:179153527-179153528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376454467	chr1:179153613-179153614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543988934	chr1:179153622-179153623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557496494	chr1:179153629-179153630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577783186	chr1:179153644-179153645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28914474	chr1:179153675-179153676	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs28914473	chr1:179153681-179153682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs386637144	chr1:179153697-179153698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565810973	chr1:179153716-179153717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542690129	chr1:179153748-179153749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562546870	chr1:179153751-179153752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531466153	chr1:179153760-179153761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551514266	chr1:179153771-179153772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570993495	chr1:179153773-179153774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533361951	chr1:179153800-179153801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367969882	chr1:179153801-179153802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547266006	chr1:179153846-179153847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568874557	chr1:179153852-179153853	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534418071	chr1:179153897-179153898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368241598	chr1:179153898-179153899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555806047	chr1:179153911-179153912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567101555	chr1:179153923-179153924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28914472	chr1:179153954-179153955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555378658	chr1:179153971-179153972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539454363	chr1:179154002-179154003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568928733	chr1:179154027-179154028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572303363	chr1:179154072-179154073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116477961	chr1:179154094-179154095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73044740	chr1:179154098-179154099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150129804	chr1:179154101-179154102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540093964	chr1:179154102-179154103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569626363	chr1:179154103-179154104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1687172	chr1:179154125-179154126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554029442	chr1:179154140-179154141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374806922	chr1:179154158-179154159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573880384	chr1:179154166-179154167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564191302	chr1:179154189-179154190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184047596	chr1:179154213-179154214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179117800-179186000	Weak transcription	Fetal Stomach	stomach
2	chr1:179122000-179189400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:179134000-179169000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:179139400-179157200	Weak transcription	K562	blood
5	chr1:179139400-179158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:179139400-179196800	Weak transcription	Pancreas	Pancrea
7	chr1:179144800-179159200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:179145000-179158600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:179145000-179159800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:179145000-179159800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:179145400-179159000	Weak transcription	Right Ventricle	heart
12	chr1:179146800-179175600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:179147600-179160000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:179147600-179174600	Weak transcription	Psoas Muscle	Psoas
15	chr1:179148000-179186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:179148400-179185800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:179148800-179156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:179149200-179157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:179149800-179157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:179150600-179157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:179150600-179176000	Weak transcription	HSMM	muscle
22	chr1:179150800-179154000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:179150800-179170600	Weak transcription	Ovary	ovary
24	chr1:179150800-179178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:179150800-179180400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:179151000-179155200	Weak transcription	Esophagus	oesophagus
27	chr1:179152400-179158600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:179152800-179153600	Enhancers	GM12878-XiMat	blood
29	chr1:179153000-179154000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:179153600-179160000	Weak transcription	GM12878-XiMat	blood
31	chr1:179153600-179169800	Weak transcription	Small Intestine	intestine
32	chr1:179153800-179154200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:179154000-179154200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:179154000-179154400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:179154000-179171600	Weak transcription	Primary T cells from cord blood	blood
36	chr1:179154200-179159400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:179154400-179159800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:179155400-179157200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:179155600-179160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:179155800-179156400	Enhancers	HepG2	liver
41	chr1:179156000-179156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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