Variant report

Variant	nsv946506
Chromosome Location	chr1:172718056-172719305
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	chr1:172717095..172718672-chr1:172718732..172721628,2	K562	blood:

Variant related genes	Relation type
ENSG00000229785	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549731054	chr1:172718065-172718066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112356842	chr1:172718076-172718077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368169461	chr1:172718084-172718085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115457643	chr1:172718106-172718107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143471853	chr1:172718116-172718117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111320460	chr1:172718129-172718130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146727700	chr1:172718142-172718143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553749181	chr1:172718154-172718155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572148870	chr1:172718162-172718163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542499851	chr1:172718181-172718182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554472040	chr1:172718213-172718214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192854838	chr1:172718214-172718215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543261731	chr1:172718220-172718221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564947231	chr1:172718225-172718226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184779733	chr1:172718250-172718251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140315680	chr1:172718254-172718255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559372858	chr1:172718368-172718369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529740871	chr1:172718417-172718418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549666556	chr1:172718418-172718419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188125252	chr1:172718441-172718442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115484966	chr1:172718496-172718497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191390210	chr1:172718517-172718518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199647846	chr1:172718533-172718534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149663669	chr1:172718536-172718537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34130773	chr1:172718538-172718539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183954145	chr1:172718547-172718548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143258936	chr1:172718555-172718556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538739679	chr1:172718574-172718575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553884221	chr1:172718621-172718622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565715338	chr1:172718662-172718663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189370727	chr1:172718681-172718682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554402601	chr1:172718715-172718716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548397753	chr1:172718770-172718771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576260768	chr1:172718773-172718774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543745764	chr1:172718774-172718775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182245701	chr1:172718778-172718779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577000233	chr1:172718784-172718785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186831441	chr1:172718854-172718855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559509687	chr1:172718855-172718856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190007361	chr1:172718879-172718880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541858301	chr1:172718880-172718881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7541181	chr1:172718914-172718915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531911412	chr1:172718929-172718930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12144816	chr1:172718948-172718949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565322820	chr1:172718989-172718990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532597794	chr1:172719026-172719027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547458313	chr1:172719037-172719038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373984623	chr1:172719038-172719039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565853219	chr1:172719063-172719064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs114425299	chr1:172719088-172719089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172716400-172729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:172716600-172722200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:172716800-172723400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:172717000-172718200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:172717000-172719000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:172717000-172722800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:172717000-172723200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:172717800-172718600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:172718200-172719000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:172718600-172719200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:172719000-172723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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