Variant report

Variant	esv2407337
Chromosome Location	chr1:194802386-194808128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
2	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
3	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
4	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
5	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
6	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531621857	chr1:194802390-194802391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531702330	chr1:194802398-194802399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150523600	chr1:194802442-194802443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550285963	chr1:194802511-194802512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370076054	chr1:194802545-194802546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368700712	chr1:194802574-194802575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571529955	chr1:194802575-194802576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76153550	chr1:194802576-194802577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539055905	chr1:194802584-194802585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201603939	chr1:194802589-194802590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10921670	chr1:194802610-194802611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536795338	chr1:194802678-194802679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191658905	chr1:194802700-194802701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576614867	chr1:194802754-194802755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184685656	chr1:194802764-194802765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551721767	chr1:194802825-194802826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73060406	chr1:194802845-194802846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372465223	chr1:194802865-194802866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544616384	chr1:194802876-194802877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559972039	chr1:194802891-194802892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571872667	chr1:194802894-194802895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532370026	chr1:194802898-194802899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542555022	chr1:194802907-194802908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560911452	chr1:194802908-194802909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545484996	chr1:194802924-194802925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531563004	chr1:194802950-194802951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189598645	chr1:194803039-194803040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571727760	chr1:194803134-194803135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532507690	chr1:194803136-194803137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560580104	chr1:194803165-194803166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527641800	chr1:194803193-194803194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547815718	chr1:194803232-194803233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192576490	chr1:194803252-194803253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536934061	chr1:194803261-194803262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117045367	chr1:194803282-194803283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201476078	chr1:194803333-194803334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11462213	chr1:194803347-194803348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114532355	chr1:194803409-194803410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550080420	chr1:194803437-194803438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146676199	chr1:194803438-194803439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140230203	chr1:194803458-194803459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577324300	chr1:194803478-194803479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538396130	chr1:194803493-194803494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571471597	chr1:194803501-194803502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143844005	chr1:194803524-194803525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542493789	chr1:194803525-194803526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151105571	chr1:194803529-194803530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71644803	chr1:194803556-194803557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141052247	chr1:194803568-194803569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184475326	chr1:194803611-194803612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:194807600-194807800	Strong transcription	K562	blood
5	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
6	chr1:194808000-194825600	Weak transcription	K562	blood

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