Variant report

Variant	esv275445
Chromosome Location	chr1:194021985-194026943
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	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs564096051	chr1:194021997-194021998	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573007795	chr1:194021999-194022000	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540111301	chr1:194022015-194022016	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561963989	chr1:194022035-194022036	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529250033	chr1:194022045-194022046	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550984693	chr1:194022056-194022057	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4657901	chr1:194022066-194022067	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74131282	chr1:194022069-194022070	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs58006978	chr1:194022070-194022071	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566911271	chr1:194022080-194022081	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192597017	chr1:194022081-194022082	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549361565	chr1:194022091-194022092	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185628940	chr1:194022095-194022096	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145794853	chr1:194022096-194022097	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556519708	chr1:194022108-194022109	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138234747	chr1:194022166-194022167	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539124749	chr1:194022177-194022178	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557841915	chr1:194022202-194022203	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139054462	chr1:194022243-194022244	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61831385	chr1:194022262-194022263	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190104777	chr1:194022369-194022370	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540280022	chr1:194022383-194022384	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555640668	chr1:194022426-194022427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181749673	chr1:194022484-194022485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74229763	chr1:194022533-194022534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561927917	chr1:194022581-194022582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562837716	chr1:194022656-194022657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375336852	chr1:194022688-194022689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533372457	chr1:194022693-194022694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545127056	chr1:194022705-194022706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558093470	chr1:194022710-194022711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7417488	chr1:194022745-194022746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527824737	chr1:194022754-194022755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375101102	chr1:194022787-194022788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17615197	chr1:194022818-194022819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567551192	chr1:194022819-194022820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369595202	chr1:194022879-194022880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113030600	chr1:194022888-194022889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10921492	chr1:194022952-194022953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368995474	chr1:194022958-194022959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74131285	chr1:194022975-194022976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539420222	chr1:194023037-194023038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557513122	chr1:194023057-194023058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566551720	chr1:194023127-194023128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74896619	chr1:194023138-194023139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555579440	chr1:194023141-194023142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76645209	chr1:194023150-194023151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555578139	chr1:194023167-194023168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533583544	chr1:194023179-194023180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184690263	chr1:194023198-194023199	Enhancers 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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194020400-194030800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr1:194020800-194030800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:194021000-194022400	Enhancers	Thymus	Thymus
4	chr1:194021000-194023600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:194021200-194022400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:194021200-194022400	Enhancers	Fetal Thymus	thymus
7	chr1:194021200-194024800	Weak transcription	Small Intestine	intestine
8	chr1:194021200-194027600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:194021400-194022200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:194021400-194022400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:194021600-194022000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:194021600-194022200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:194021600-194022400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr1:194021800-194022000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:194021800-194022000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:194021800-194022200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr1:194021800-194022400	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:194022000-194022200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:194022000-194022200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:194022000-194022200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr1:194022000-194022200	Enhancers	Fetal Lung	lung
25	chr1:194022000-194022400	Enhancers	Pancreas	Pancrea
26	chr1:194022000-194022400	Enhancers	Stomach Mucosa	stomach
27	chr1:194022200-194022400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:194022200-194023000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:194022200-194024200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:194022200-194024400	Weak transcription	Fetal Lung	lung
31	chr1:194022200-194025600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:194022200-194030600	Enhancers	Primary T cells from cord blood	blood
33	chr1:194022200-194030800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:194022400-194024000	Weak transcription	Fetal Thymus	thymus
35	chr1:194022400-194024600	Weak transcription	Thymus	Thymus
36	chr1:194022400-194024800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:194022400-194025000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:194022400-194025200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:194022400-194025200	Weak transcription	Stomach Mucosa	stomach
42	chr1:194022400-194027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:194022400-194029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:194022400-194030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:194023000-194023400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:194023400-194027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:194023600-194024400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:194023800-194025800	Enhancers	Fetal Heart	heart
49	chr1:194024000-194024200	Enhancers	Fetal Thymus	thymus
50	chr1:194024200-194024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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