Variant report

Variant	nsv1062522
Chromosome Location	chr18:30268383-30306081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30263523..30266347-chr18:30268826..30270934,2	K562	blood:
2	chr18:30262728..30263606-chr18:30294291..30295005,2	MCF-7	breast:
3	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
4	chr18:30294211..30294986-chr18:30781366..30782176,2	MCF-7	breast:
5	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
6	chr18:30295209..30296136-chr18:30349960..30350509,2	MCF-7	breast:
7	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:

Extended variants
information (count: 1326 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8093716	chr18:30268383-30268384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143624407	chr18:30268405-30268406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182806851	chr18:30268409-30268410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537379930	chr18:30268420-30268421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555270495	chr18:30268434-30268435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573821351	chr18:30268464-30268465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549554826	chr18:30268482-30268483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540880566	chr18:30268539-30268540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567923116	chr18:30268563-30268564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79323518	chr18:30268570-30268571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577344401	chr18:30268572-30268573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544586052	chr18:30268585-30268586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112831798	chr18:30268595-30268596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531907401	chr18:30268621-30268622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544134480	chr18:30268622-30268623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562251874	chr18:30268651-30268652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529440887	chr18:30268705-30268706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147226216	chr18:30268748-30268749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376868125	chr18:30268760-30268761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185188803	chr18:30268771-30268772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551779547	chr18:30268781-30268782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3848486	chr18:30268788-30268789	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368441513	chr18:30268809-30268810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78156274	chr18:30268834-30268835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549221230	chr18:30268853-30268854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567454175	chr18:30268857-30268858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189935940	chr18:30268919-30268920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552767216	chr18:30268920-30268921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141311168	chr18:30268933-30268934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558207316	chr18:30268936-30268937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538390237	chr18:30269007-30269008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9965685	chr18:30269017-30269018	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117609401	chr18:30269121-30269122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542259779	chr18:30269122-30269123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183651938	chr18:30269151-30269152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374071453	chr18:30269230-30269231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189096401	chr18:30269250-30269251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541622617	chr18:30269262-30269263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560016234	chr18:30269286-30269287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73955257	chr18:30269333-30269334	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10048397	chr18:30269373-30269374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563783208	chr18:30269406-30269407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572614865	chr18:30269462-30269463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150620848	chr18:30269464-30269465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76691196	chr18:30269505-30269506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534648047	chr18:30269519-30269520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373040961	chr18:30269621-30269622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546384094	chr18:30269677-30269678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571147734	chr18:30269714-30269715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538453668	chr18:30269771-30269772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30252200-30277200	Weak transcription	Spleen	Spleen
2	chr18:30253200-30275400	Strong transcription	Primary B cells from cord blood	blood
3	chr18:30260400-30282200	Weak transcription	Fetal Kidney	kidney
4	chr18:30267200-30268600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr18:30267200-30268600	Weak transcription	HepG2	liver
6	chr18:30267400-30270800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:30268400-30273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:30268600-30269200	Enhancers	HMEC	breast
9	chr18:30268600-30275400	Strong transcription	HepG2	liver
10	chr18:30268600-30276000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr18:30270800-30277200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:30272800-30273000	Active TSS	Gastric	stomach
13	chr18:30273000-30273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:30273000-30273200	Flanking Active TSS	Gastric	stomach
15	chr18:30273600-30275200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr18:30274000-30274200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:30275200-30276400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:30275400-30278000	Weak transcription	HepG2	liver
19	chr18:30275400-30284000	Weak transcription	Primary B cells from cord blood	blood
20	chr18:30275800-30276000	Enhancers	HSMM	muscle
21	chr18:30276000-30284200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr18:30276200-30278200	Weak transcription	HSMM	muscle
23	chr18:30276400-30278800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr18:30277000-30277200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:30277000-30278000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:30277200-30278200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:30277200-30278400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:30277200-30278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:30277200-30286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:30277400-30278400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr18:30278000-30280200	Enhancers	HepG2	liver
32	chr18:30278200-30278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:30278200-30278600	Enhancers	HSMM	muscle
34	chr18:30278200-30279200	Enhancers	Stomach Mucosa	stomach
35	chr18:30278200-30279200	Enhancers	HUVEC	blood vessel
36	chr18:30278200-30279600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr18:30278800-30287400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:30279600-30279800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:30280200-30280400	Enhancers	Fetal Brain Male	brain
40	chr18:30280200-30282800	Weak transcription	HepG2	liver
41	chr18:30280600-30281200	Weak transcription	Fetal Brain Male	brain
42	chr18:30281200-30281400	Enhancers	Fetal Brain Male	brain
43	chr18:30281200-30281600	Enhancers	Brain Cingulate Gyrus	brain
44	chr18:30281400-30281600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr18:30281400-30285000	Weak transcription	Fetal Brain Male	brain
46	chr18:30282800-30283600	Strong transcription	HepG2	liver
47	chr18:30283600-30286000	Weak transcription	HepG2	liver
48	chr18:30284000-30284600	Enhancers	Primary B cells from cord blood	blood
49	chr18:30284200-30285000	Enhancers	Primary B cells from peripheral blood	blood
50	chr18:30284600-30284800	Weak transcription	Primary B cells from cord blood	blood

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