Variant report

Variant	nsv947450
Chromosome Location	chr1:172786009-172789082
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	chr1:172786300..172787815-chr1:172791310..172794035,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368801136	chr1:172786009-172786010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113078311	chr1:172786110-172786111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76319898	chr1:172786125-172786126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576430824	chr1:172786218-172786219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141419986	chr1:172786233-172786234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115487266	chr1:172786252-172786253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112180451	chr1:172786308-172786309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143600191	chr1:172786346-172786347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3083374	chr1:172786347-172786348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36108405	chr1:172786348-172786349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557693868	chr1:172786409-172786410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572715102	chr1:172786446-172786447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542826667	chr1:172786466-172786467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561539513	chr1:172786483-172786484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531982907	chr1:172786515-172786516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564222088	chr1:172786527-172786528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376523347	chr1:172786545-172786546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112923006	chr1:172786591-172786592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146996701	chr1:172786597-172786598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61810479	chr1:172786617-172786618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138068761	chr1:172786629-172786630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34476630	chr1:172786741-172786742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2213748	chr1:172786770-172786771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547783251	chr1:172786787-172786788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374899260	chr1:172786788-172786789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530006959	chr1:172786802-172786803	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114841960	chr1:172786858-172786859	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569508332	chr1:172786867-172786868	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372487072	chr1:172786961-172786962	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536896391	chr1:172786988-172786989	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551833599	chr1:172787021-172787022	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570247370	chr1:172787037-172787038	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534288929	chr1:172787048-172787049	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182342558	chr1:172787067-172787068	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535563323	chr1:172787105-172787106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77876486	chr1:172787185-172787186	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536939966	chr1:172787203-172787204	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532208344	chr1:172787207-172787208	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191015907	chr1:172787213-172787214	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576686200	chr1:172787226-172787227	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544064545	chr1:172787353-172787354	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182760877	chr1:172787361-172787362	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150105984	chr1:172787393-172787394	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541019438	chr1:172787433-172787434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138394988	chr1:172787441-172787442	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530081590	chr1:172787471-172787472	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187446228	chr1:172787497-172787498	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192820407	chr1:172787528-172787529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12090786	chr1:172787556-172787557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16844989	chr1:172787588-172787589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172785400-172788400	Weak transcription	HSMMtube	muscle
2	chr1:172786400-172789400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:172786600-172786800	Enhancers	GM12878-XiMat	blood
4	chr1:172786600-172788000	Enhancers	Primary B cells from cord blood	blood
5	chr1:172786600-172788400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:172786800-172788000	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:172786800-172788200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:172786800-172789400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:172787000-172788200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:172787000-172789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:172787200-172787600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:172787200-172787800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr1:172787200-172788000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:172787200-172788600	Enhancers	Adipose Nuclei	Adipose
15	chr1:172787400-172788000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:172787400-172788000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:172787400-172788000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:172787400-172788600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:172787400-172789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:172787400-172789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:172787400-172789400	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:172787400-172793800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:172787600-172788000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:172787600-172788000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:172787600-172788200	Enhancers	Dnd41	blood
26	chr1:172787600-172788400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:172787600-172788600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:172787600-172788600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:172787600-172788600	Active TSS	Duodenum Mucosa	Duodenum
30	chr1:172787600-172788800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:172787600-172789000	Enhancers	Fetal Muscle Leg	muscle
32	chr1:172787600-172789000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:172787600-172789200	Enhancers	Primary T cells from cord blood	blood
34	chr1:172787600-172793800	Enhancers	NHDF-Ad	bronchial
35	chr1:172787800-172788400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:172787800-172788600	Enhancers	Brain Anterior Caudate	brain
37	chr1:172787800-172788800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr1:172787800-172789000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:172787800-172789000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:172787800-172789000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:172787800-172789200	Enhancers	NHLF	lung
42	chr1:172787800-172791200	Enhancers	Osteobl	bone
43	chr1:172788000-172788200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:172788000-172788200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:172788000-172788400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:172788000-172788400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:172788000-172788400	Enhancers	Brain Hippocampus Middle	brain
48	chr1:172788000-172788400	Enhancers	K562	blood
49	chr1:172788000-172788600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:172788000-172788600	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links