Variant report

Variant	esv2762211
Chromosome Location	chr1:195734313-195741103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195729478..195731927-chr1:195733670..195735429,2	K562	blood:
2	chr1:195728301..195731398-chr1:195733712..195736941,3	MCF-7	breast:
3	chr1:195735286..195738996-chr1:195739915..195743244,3	K562	blood:
4	chr1:195735286..195738996-chr1:195739915..195743244,3	K562	blood:
5	chr1:195735500..195737383-chr1:195741979..195744351,2	MCF-7	breast:
6	chr1:195723006..195725382-chr1:195733358..195735246,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150666571	chr1:195734396-195734397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10921913	chr1:195734400-195734401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565371925	chr1:195734526-195734527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563255209	chr1:195734533-195734534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575189234	chr1:195734577-195734578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138849315	chr1:195734633-195734634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149379071	chr1:195734729-195734730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185860700	chr1:195734790-195734791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367854353	chr1:195734792-195734793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4010	chr1:195734806-195734807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs190084843	chr1:195734908-195734909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180902840	chr1:195734975-195734976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529529142	chr1:195734985-195734986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551232284	chr1:195735025-195735026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531562082	chr1:195735095-195735096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144706099	chr1:195735153-195735154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551478398	chr1:195735204-195735205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139893135	chr1:195735305-195735306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533987368	chr1:195735327-195735328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145330610	chr1:195735358-195735359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574256975	chr1:195735393-195735394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147439915	chr1:195735417-195735418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139742318	chr1:195735429-195735430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556764178	chr1:195735436-195735437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113486488	chr1:195735459-195735460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145268658	chr1:195735485-195735486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367544512	chr1:195735539-195735540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546118533	chr1:195735543-195735544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79342061	chr1:195735544-195735545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532755328	chr1:195735545-195735546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77709638	chr1:195735560-195735561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376902265	chr1:195735578-195735579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192021871	chr1:195735591-195735592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529028956	chr1:195735599-195735600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12029959	chr1:195735610-195735611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184190669	chr1:195735642-195735643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533420320	chr1:195735700-195735701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552051297	chr1:195735716-195735717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566722345	chr1:195735733-195735734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534212965	chr1:195735761-195735762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377569564	chr1:195735766-195735767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76185734	chr1:195735775-195735776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548997620	chr1:195735782-195735783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567398715	chr1:195735818-195735819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537994733	chr1:195735834-195735835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538020717	chr1:195735853-195735854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140805110	chr1:195735907-195735908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564864691	chr1:195735914-195735915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547646974	chr1:195735957-195735958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558033384	chr1:195735971-195735972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195733400-195736000	Weak transcription	A549	lung
2	chr1:195736000-195736400	Enhancers	A549	lung
3	chr1:195738200-195738600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:195738200-195739000	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links