Variant report

Variant	nsv1060732
Chromosome Location	chr18:30267156-30304435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1299 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186977078	chr18:30267212-30267213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543489094	chr18:30267235-30267236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202134536	chr18:30267240-30267241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369189703	chr18:30267273-30267274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570821563	chr18:30267274-30267275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531746988	chr18:30267280-30267281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550361957	chr18:30267384-30267385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74956971	chr18:30267407-30267408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535971420	chr18:30267469-30267470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553875266	chr18:30267479-30267480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566118163	chr18:30267482-30267483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371788845	chr18:30267502-30267503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146946090	chr18:30267604-30267605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560067648	chr18:30267609-30267610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539101974	chr18:30267616-30267617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373247522	chr18:30267636-30267637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190168277	chr18:30267647-30267648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77916184	chr18:30267661-30267662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80354473	chr18:30267701-30267702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555570987	chr18:30267813-30267814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112829566	chr18:30267820-30267821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17745306	chr18:30267861-30267862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559078850	chr18:30267898-30267899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532728529	chr18:30267908-30267909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115828500	chr18:30268065-30268066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564414624	chr18:30268086-30268087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531914040	chr18:30268217-30268218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552184739	chr18:30268237-30268238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550081464	chr18:30268248-30268249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116129854	chr18:30268319-30268320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555523677	chr18:30268323-30268324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547827894	chr18:30268344-30268345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566179446	chr18:30268345-30268346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8093716	chr18:30268383-30268384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143624407	chr18:30268405-30268406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182806851	chr18:30268409-30268410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537379930	chr18:30268420-30268421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555270495	chr18:30268434-30268435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573821351	chr18:30268464-30268465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549554826	chr18:30268482-30268483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540880566	chr18:30268539-30268540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567923116	chr18:30268563-30268564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79323518	chr18:30268570-30268571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577344401	chr18:30268572-30268573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544586052	chr18:30268585-30268586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112831798	chr18:30268595-30268596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531907401	chr18:30268621-30268622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544134480	chr18:30268622-30268623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562251874	chr18:30268651-30268652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529440887	chr18:30268705-30268706	Weak transcription Strong transcription Enhancers	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30252200-30277200	Weak transcription	Spleen	Spleen
2	chr18:30253200-30267200	Strong transcription	HepG2	liver
3	chr18:30253200-30275400	Strong transcription	Primary B cells from cord blood	blood
4	chr18:30260400-30282200	Weak transcription	Fetal Kidney	kidney
5	chr18:30265000-30267200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr18:30266400-30267400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:30267200-30268600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:30267200-30268600	Weak transcription	HepG2	liver
9	chr18:30267400-30270800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:30268400-30273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:30268600-30269200	Enhancers	HMEC	breast
12	chr18:30268600-30275400	Strong transcription	HepG2	liver
13	chr18:30268600-30276000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr18:30270800-30277200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:30272800-30273000	Active TSS	Gastric	stomach
16	chr18:30273000-30273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:30273000-30273200	Flanking Active TSS	Gastric	stomach
18	chr18:30273600-30275200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr18:30274000-30274200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:30275200-30276400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:30275400-30278000	Weak transcription	HepG2	liver
22	chr18:30275400-30284000	Weak transcription	Primary B cells from cord blood	blood
23	chr18:30275800-30276000	Enhancers	HSMM	muscle
24	chr18:30276000-30284200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr18:30276200-30278200	Weak transcription	HSMM	muscle
26	chr18:30276400-30278800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr18:30277000-30277200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:30277000-30278000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:30277200-30278200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:30277200-30278400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr18:30277200-30278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:30277200-30286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:30277400-30278400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:30278000-30280200	Enhancers	HepG2	liver
35	chr18:30278200-30278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:30278200-30278600	Enhancers	HSMM	muscle
37	chr18:30278200-30279200	Enhancers	Stomach Mucosa	stomach
38	chr18:30278200-30279200	Enhancers	HUVEC	blood vessel
39	chr18:30278200-30279600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr18:30278800-30287400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:30279600-30279800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:30280200-30280400	Enhancers	Fetal Brain Male	brain
43	chr18:30280200-30282800	Weak transcription	HepG2	liver
44	chr18:30280600-30281200	Weak transcription	Fetal Brain Male	brain
45	chr18:30281200-30281400	Enhancers	Fetal Brain Male	brain
46	chr18:30281200-30281600	Enhancers	Brain Cingulate Gyrus	brain
47	chr18:30281400-30281600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr18:30281400-30285000	Weak transcription	Fetal Brain Male	brain
49	chr18:30282800-30283600	Strong transcription	HepG2	liver
50	chr18:30283600-30286000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links