Variant report

Variant	nsv947556
Chromosome Location	chr1:185515946-185523530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185285082..185288295-chr1:185515425..185517747,3	MCF-7	breast:
2	chr1:185285876..185287918-chr1:185522618..185524313,2	K562	blood:
3	chr1:185518755..185520867-chr1:185527549..185529971,2	K562	blood:
4	chr1:185285184..185286832-chr1:185521305..185523593,2	MCF-7	breast:
5	chr1:185513540..185515930-chr1:185515979..185518675,2	K562	blood:

Variant related genes	Relation type
ENSG00000273004	chromatin interactions
ENSG00000116679	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541886220	chr1:185515982-185515983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556004776	chr1:185515988-185515989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185304063	chr1:185516073-185516074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190165140	chr1:185516080-185516081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138986024	chr1:185516084-185516085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530508952	chr1:185516125-185516126	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545784482	chr1:185516142-185516143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564367264	chr1:185516216-185516217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576175427	chr1:185516231-185516232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200339470	chr1:185516264-185516265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375306930	chr1:185516289-185516290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142234528	chr1:185516308-185516309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561845356	chr1:185516348-185516349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545775166	chr1:185516350-185516351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530252048	chr1:185516384-185516385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs984700	chr1:185516407-185516408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs36090331	chr1:185516456-185516457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560491042	chr1:185516512-185516513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200768783	chr1:185516542-185516543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79872310	chr1:185516543-185516544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527643393	chr1:185516549-185516550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs60715615	chr1:185516559-185516560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs55672971	chr1:185516560-185516561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73068090	chr1:185516615-185516616	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571096281	chr1:185516642-185516643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528353730	chr1:185516688-185516689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs1119662	chr1:185516706-185516707	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2134834	chr1:185516796-185516797	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182704464	chr1:185516917-185516918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144857029	chr1:185516964-185516965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529415514	chr1:185516965-185516966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553407205	chr1:185516978-185516979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565349793	chr1:185516986-185516987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551046570	chr1:185517005-185517006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368945616	chr1:185517007-185517008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148502024	chr1:185517059-185517060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557789353	chr1:185517119-185517120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs72726086	chr1:185517142-185517143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201035919	chr1:185517146-185517147	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187692840	chr1:185517159-185517160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555642832	chr1:185517219-185517220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs74135133	chr1:185517243-185517244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546533141	chr1:185517265-185517266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184071158	chr1:185517275-185517276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142818635	chr1:185517280-185517281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs73068092	chr1:185517287-185517288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150632103	chr1:185517288-185517289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188654318	chr1:185517331-185517332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191977512	chr1:185517341-185517342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532070526	chr1:185517367-185517368	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185507000-185518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:185511600-185516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:185511800-185518200	Weak transcription	Placenta	Placenta
4	chr1:185512400-185520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:185514200-185518400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:185514200-185519600	Weak transcription	Fetal Brain Female	brain
7	chr1:185515400-185520200	Weak transcription	Gastric	stomach
8	chr1:185516200-185516400	Enhancers	Right Atrium	heart
9	chr1:185516400-185516600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:185516800-185517600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:185518200-185518400	Enhancers	Placenta	Placenta
12	chr1:185518400-185518600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:185518400-185518800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:185518400-185519800	Weak transcription	Placenta	Placenta
15	chr1:185519400-185519800	Enhancers	Stomach Mucosa	stomach
16	chr1:185519400-185520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:185519400-185520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:185519400-185520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:185519600-185519800	Enhancers	Fetal Brain Female	brain
20	chr1:185519600-185520400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:185519800-185521000	Enhancers	Placenta	Placenta
22	chr1:185520200-185520400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:185520200-185520600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:185520200-185520600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:185520200-185520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:185520200-185520800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:185520200-185520800	Enhancers	Adipose Nuclei	Adipose
28	chr1:185520200-185520800	Enhancers	Gastric	stomach
29	chr1:185520200-185521000	Enhancers	Pancreas	Pancrea
30	chr1:185520800-185528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:185521000-185533800	Weak transcription	Placenta	Placenta
32	chr1:185522400-185523200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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