Variant report

Variant	esv3339507
Chromosome Location	chr1:194854329-194859127
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	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
2	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557026977	chr1:194854338-194854339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556146881	chr1:194854346-194854347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577963069	chr1:194854359-194854360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140508722	chr1:194854360-194854361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144891252	chr1:194854400-194854401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572266235	chr1:194854482-194854483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556143962	chr1:194854541-194854542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542833995	chr1:194854571-194854572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561208038	chr1:194854623-194854624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145598763	chr1:194854644-194854645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112549831	chr1:194854659-194854660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61815549	chr1:194854684-194854685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532413370	chr1:194854701-194854702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547685528	chr1:194854702-194854703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114521005	chr1:194854703-194854704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs339628	chr1:194854749-194854750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs111308131	chr1:194854804-194854805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573086803	chr1:194854820-194854821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567221894	chr1:194854839-194854840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187691580	chr1:194854853-194854854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376047266	chr1:194854868-194854869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564600602	chr1:194854889-194854890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148029350	chr1:194854910-194854911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528353699	chr1:194854914-194854915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372211091	chr1:194855022-194855023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs339629	chr1:194855036-194855037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7525708	chr1:194855058-194855059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554084686	chr1:194855074-194855075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572336797	chr1:194855112-194855113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191467325	chr1:194855136-194855137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561156333	chr1:194855139-194855140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142101302	chr1:194855176-194855177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565213294	chr1:194855257-194855258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529066724	chr1:194855272-194855273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374137678	chr1:194855333-194855334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550403360	chr1:194855370-194855371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376845343	chr1:194855377-194855378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141702159	chr1:194855396-194855397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565087116	chr1:194855398-194855399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532353603	chr1:194855429-194855430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112584221	chr1:194855457-194855458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145866247	chr1:194855501-194855502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559584454	chr1:194855502-194855503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369046323	chr1:194855503-194855504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570134203	chr1:194855513-194855514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530446896	chr1:194855526-194855527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560538186	chr1:194855529-194855530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138661119	chr1:194855532-194855533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373109916	chr1:194855536-194855537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184776364	chr1:194855557-194855558	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
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	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
7	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
8	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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