Variant report

Variant	nsv947552
Chromosome Location	chr1:172794244-172807477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172799395..172801919-chr1:172804885..172806997,2	K562	blood:
2	chr1:172794864..172795940-chr1:173170762..173172112,10	MCF-7	breast:
3	chr1:172799395..172801919-chr1:172804885..172806997,2	K562	blood:
4	chr1:172794787..172796035-chr1:173170815..173172252,9	MCF-7	breast:
5	chr1:172795250..172796219-chr1:173171117..173172150,4	K562	blood:
6	chr1:172714289..172714906-chr1:172794894..172795766,2	MCF-7	breast:

Extended variants
information (count: 414 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116073303	chr1:172794319-172794320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559570045	chr1:172794320-172794321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12239220	chr1:172794361-172794362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183303325	chr1:172794403-172794404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563133899	chr1:172794439-172794440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10449225	chr1:172794500-172794501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs572810986	chr1:172794542-172794543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552229515	chr1:172794569-172794570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570490236	chr1:172794642-172794643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528056805	chr1:172794643-172794644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7548802	chr1:172794648-172794649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566333878	chr1:172794653-172794654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536934327	chr1:172794661-172794662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114054677	chr1:172794664-172794665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187057584	chr1:172794669-172794670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558416440	chr1:172794747-172794748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372042561	chr1:172794754-172794755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537279686	chr1:172794783-172794784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558974855	chr1:172794795-172794796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577288354	chr1:172794804-172794805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34594734	chr1:172794840-172794841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577794990	chr1:172794848-172794849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190064734	chr1:172794852-172794853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552959817	chr1:172794861-172794862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10449226	chr1:172794889-172794890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71563214	chr1:172794893-172794894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537551735	chr1:172794942-172794943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541720364	chr1:172794948-172794949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563607396	chr1:172794958-172794959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530718560	chr1:172794996-172794997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187327597	chr1:172795071-172795072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10912476	chr1:172795086-172795087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528180368	chr1:172795125-172795126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546714589	chr1:172795135-172795136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191426332	chr1:172795184-172795185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148754107	chr1:172795233-172795234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12142778	chr1:172795236-172795237	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34476190	chr1:172795237-172795238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144674355	chr1:172795275-172795276	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570378328	chr1:172795295-172795296	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537622779	chr1:172795308-172795309	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552500682	chr1:172795317-172795318	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115125837	chr1:172795344-172795345	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368450009	chr1:172795367-172795368	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35965602	chr1:172795371-172795372	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559687856	chr1:172795396-172795397	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534799889	chr1:172795402-172795403	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs553098726	chr1:172795422-172795423	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs574472377	chr1:172795429-172795430	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs182949509	chr1:172795458-172795459	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Intellectual disability	22102821	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
Burkitt''s lymphoma	19759907	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172788400-172795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:172788800-172797000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:172789000-172795400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:172789000-172795400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:172789000-172795400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:172789000-172796600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:172789000-172797000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:172789400-172795400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:172790000-172795200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:172790200-172794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:172790600-172795200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:172790800-172795400	Weak transcription	A549	lung
13	chr1:172791000-172795200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:172791200-172795200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:172791200-172795400	Weak transcription	Fetal Lung	lung
16	chr1:172791200-172806200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:172791400-172795400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:172791400-172795400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:172791800-172795200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:172792000-172795000	Weak transcription	Dnd41	blood
21	chr1:172792000-172795600	Weak transcription	K562	blood
22	chr1:172793200-172795600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:172793600-172795200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:172793600-172795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:172793600-172795400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:172793600-172795600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:172793800-172794800	Weak transcription	HSMM	muscle
28	chr1:172793800-172794800	Weak transcription	NHDF-Ad	bronchial
29	chr1:172793800-172795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:172793800-172795000	Weak transcription	NHLF	lung
31	chr1:172793800-172795400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:172793800-172795400	Weak transcription	Adipose Nuclei	Adipose
33	chr1:172793800-172795400	Weak transcription	Osteobl	bone
34	chr1:172793800-172795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:172794000-172795000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:172794000-172795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:172794000-172795400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:172794200-172795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:172794200-172795400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:172794200-172795400	Weak transcription	HSMMtube	muscle
41	chr1:172794400-172795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:172794800-172795400	Enhancers	NHDF-Ad	bronchial
43	chr1:172794800-172795800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:172794800-172796000	Enhancers	HSMM	muscle
45	chr1:172795000-172795200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:172795000-172795400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:172795000-172795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:172795000-172795400	Enhancers	NHLF	lung
49	chr1:172795000-172796200	Enhancers	Fetal Intestine Small	intestine
50	chr1:172795000-172797200	Enhancers	Dnd41	blood

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