Variant report

Variant	nsv1008189
Chromosome Location	chr1:189875974-189926583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
2	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
3	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
4	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
5	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
6	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
7	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
8	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:

No data

Extended variants
information (count: 454 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4427406	chr1:189875974-189875975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532933131	chr1:189875989-189875990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145310195	chr1:189875992-189875993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569368078	chr1:189876023-189876024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535166518	chr1:189876038-189876039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4440853	chr1:189876058-189876059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565519503	chr1:189876124-189876125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151005282	chr1:189876138-189876139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140864812	chr1:189876150-189876151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191092775	chr1:189876169-189876170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149672300	chr1:189876171-189876172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182268842	chr1:189876172-189876173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145435792	chr1:189876187-189876188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140293653	chr1:189876188-189876189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559830146	chr1:189876231-189876232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568625931	chr1:189876248-189876249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145344442	chr1:189876254-189876255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10800748	chr1:189876460-189876461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564175767	chr1:189876490-189876491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113522305	chr1:189876539-189876540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186880911	chr1:189876600-189876601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78445278	chr1:189876633-189876634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77016237	chr1:189876648-189876649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529080159	chr1:189876655-189876656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116437684	chr1:189876656-189876657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138439560	chr1:189876682-189876683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528047465	chr1:189876684-189876685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76069295	chr1:189876694-189876695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571932479	chr1:189876777-189876778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79949053	chr1:189876797-189876798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114587989	chr1:189876860-189876861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191823126	chr1:189876876-189876877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536851832	chr1:189876881-189876882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184249395	chr1:189876897-189876898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111300715	chr1:189876898-189876899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113499997	chr1:189876964-189876965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573287369	chr1:189877003-189877004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190413136	chr1:189877004-189877005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193078258	chr1:189877023-189877024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575281081	chr1:189877072-189877073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543289210	chr1:189877117-189877118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563279756	chr1:189877119-189877120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185518987	chr1:189877154-189877155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542830119	chr1:189877195-189877196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559137880	chr1:189877217-189877218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141341692	chr1:189877320-189877321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190404767	chr1:189877400-189877401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180771492	chr1:189877406-189877407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79800407	chr1:189877412-189877413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551259266	chr1:189877434-189877435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189869800-189884200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:189876800-189877000	Enhancers	Spleen	Spleen
3	chr1:189890400-189890800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:189890400-189890800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:189890400-189891000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:189890400-189891200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:189890600-189891000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:189890600-189891000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:189890800-189891400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:189898600-189899000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:189898600-189899200	Enhancers	Pancreas	Pancrea
12	chr1:189898800-189899000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:189898800-189899200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:189910800-189911400	Enhancers	A549	lung
15	chr1:189918800-189919200	Enhancers	A549	lung

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