Variant report

Variant	nsv548665
Chromosome Location	chr1:194022818-194037890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194030362..194032550-chr1:194034091..194036103,2	MCF-7	breast:
2	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:
3	chr1:194034954..194036751-chr1:194037029..194038550,2	MCF-7	breast:
4	chr1:194034954..194036751-chr1:194037029..194038550,2	MCF-7	breast:
5	chr1:194030362..194032550-chr1:194034091..194036103,2	MCF-7	breast:
6	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:

Extended variants
information (count: 596 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17615197	chr1:194022818-194022819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567551192	chr1:194022819-194022820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369595202	chr1:194022879-194022880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113030600	chr1:194022888-194022889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10921492	chr1:194022952-194022953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368995474	chr1:194022958-194022959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74131285	chr1:194022975-194022976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539420222	chr1:194023037-194023038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557513122	chr1:194023057-194023058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566551720	chr1:194023127-194023128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74896619	chr1:194023138-194023139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555579440	chr1:194023141-194023142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76645209	chr1:194023150-194023151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555578139	chr1:194023167-194023168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533583544	chr1:194023179-194023180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184690263	chr1:194023198-194023199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544478969	chr1:194023280-194023281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551966097	chr1:194023289-194023290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560770099	chr1:194023294-194023295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144242225	chr1:194023297-194023298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370918479	chr1:194023298-194023299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527986743	chr1:194023371-194023372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527767293	chr1:194023381-194023382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77216757	chr1:194023487-194023488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542737609	chr1:194023530-194023531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561108756	chr1:194023586-194023587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7515665	chr1:194023617-194023618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550012848	chr1:194023643-194023644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571903176	chr1:194023670-194023671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549003858	chr1:194023699-194023700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573354564	chr1:194023703-194023704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532734228	chr1:194023721-194023722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148709767	chr1:194023723-194023724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566372554	chr1:194023727-194023728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372608672	chr1:194023769-194023770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377430119	chr1:194023770-194023771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371065554	chr1:194023771-194023772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370939320	chr1:194023786-194023787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80317201	chr1:194023799-194023800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141788335	chr1:194023800-194023801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77534574	chr1:194023839-194023840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368527479	chr1:194023843-194023844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538037033	chr1:194023845-194023846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556438647	chr1:194023853-194023854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540581942	chr1:194023875-194023876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577855191	chr1:194023904-194023905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372425525	chr1:194023976-194023977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562358269	chr1:194023980-194023981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188724715	chr1:194023986-194023987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180787108	chr1:194024008-194024009	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:128 , 50 per page) page: 1 2 3

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	chr1:194021000-194023600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr1:194021200-194024800	Weak transcription	Small Intestine	intestine
5	chr1:194021200-194027600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:194022200-194023000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:194022200-194024200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:194022200-194024400	Weak transcription	Fetal Lung	lung
9	chr1:194022200-194025600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:194022200-194030600	Enhancers	Primary T cells from cord blood	blood
11	chr1:194022200-194030800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:194022400-194024000	Weak transcription	Fetal Thymus	thymus
13	chr1:194022400-194024600	Weak transcription	Thymus	Thymus
14	chr1:194022400-194024800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:194022400-194025000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:194022400-194025200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:194022400-194025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:194022400-194025200	Weak transcription	Stomach Mucosa	stomach
20	chr1:194022400-194027600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:194022400-194029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:194022400-194030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:194023000-194023400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:194023400-194027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:194023600-194024400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:194023800-194025800	Enhancers	Fetal Heart	heart
27	chr1:194024000-194024200	Enhancers	Fetal Thymus	thymus
28	chr1:194024200-194024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:194024200-194024600	Weak transcription	Fetal Thymus	thymus
30	chr1:194024400-194024600	Flanking Active TSS	Fetal Lung	lung
31	chr1:194024400-194024800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:194024600-194024800	Active TSS	Fetal Lung	lung
33	chr1:194024600-194026600	Enhancers	Fetal Thymus	thymus
34	chr1:194024600-194027400	Enhancers	Thymus	Thymus
35	chr1:194024600-194030600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr1:194024800-194025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:194024800-194025400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:194024800-194025400	Flanking Active TSS	Fetal Lung	lung
39	chr1:194024800-194025600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:194024800-194025600	Enhancers	Small Intestine	intestine
41	chr1:194024800-194025800	Enhancers	Liver	Liver
42	chr1:194024800-194026200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:194025000-194025400	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:194025000-194025400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:194025000-194027000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:194025200-194025400	Enhancers	Stomach Mucosa	stomach
47	chr1:194025200-194025600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:194025200-194025600	Enhancers	Brain Hippocampus Middle	brain
49	chr1:194025200-194025600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:194025200-194025800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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