Variant report

Variant	nsv1062670
Chromosome Location	chr18:30290885-30306081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 576 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:576 , 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	rs12969787	chr18:30290885-30290886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543895830	chr18:30290933-30290934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150901345	chr18:30290993-30290994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182504494	chr18:30291000-30291001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375121888	chr18:30291018-30291019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559373787	chr18:30291033-30291034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528597511	chr18:30291081-30291082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528057293	chr18:30291195-30291196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533300586	chr18:30291197-30291198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137938154	chr18:30291210-30291211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113395349	chr18:30291246-30291247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs689520	chr18:30291285-30291286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370823377	chr18:30291287-30291288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs689521	chr18:30291346-30291347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs689522	chr18:30291350-30291351	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548630612	chr18:30291352-30291353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112289655	chr18:30291406-30291407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs689523	chr18:30291448-30291449	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs689524	chr18:30291453-30291454	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs689525	chr18:30291466-30291467	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540092324	chr18:30291483-30291484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558498224	chr18:30291486-30291487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186695331	chr18:30291498-30291499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576676296	chr18:30291541-30291542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9963102	chr18:30291550-30291551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200976704	chr18:30291591-30291592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80281932	chr18:30291593-30291594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574115048	chr18:30291595-30291596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536497883	chr18:30291608-30291609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77625873	chr18:30291645-30291646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559742374	chr18:30291662-30291663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9963370	chr18:30291709-30291710	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200906912	chr18:30291753-30291754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139871480	chr18:30291886-30291887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12458123	chr18:30291887-30291888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141587556	chr18:30291893-30291894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530590709	chr18:30291898-30291899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12458584	chr18:30291958-30291959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189148563	chr18:30291983-30291984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79990190	chr18:30292004-30292005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546381289	chr18:30292014-30292015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370969539	chr18:30292037-30292038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13339718	chr18:30292038-30292039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374950243	chr18:30292043-30292044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532161326	chr18:30292052-30292053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149621256	chr18:30292072-30292073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57536530	chr18:30292073-30292074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146573273	chr18:30292076-30292077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397765439	chr18:30292077-30292078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538135006	chr18:30292142-30292143	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30286200-30294200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr18:30288400-30299400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:30289000-30292400	Weak transcription	HepG2	liver
4	chr18:30289800-30291000	Weak transcription	Primary B cells from cord blood	blood
5	chr18:30291000-30293000	Strong transcription	Primary B cells from cord blood	blood
6	chr18:30292400-30293200	Strong transcription	HepG2	liver
7	chr18:30293000-30294200	Weak transcription	Primary B cells from cord blood	blood
8	chr18:30293200-30294200	Weak transcription	HepG2	liver
9	chr18:30294000-30295200	Enhancers	Dnd41	blood
10	chr18:30294200-30294400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:30294200-30294800	Enhancers	Primary B cells from cord blood	blood
12	chr18:30294200-30294800	Enhancers	Primary B cells from peripheral blood	blood
13	chr18:30294200-30295400	Enhancers	HepG2	liver
14	chr18:30294400-30294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:30294400-30294600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:30294400-30295000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:30294600-30295000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:30294800-30299600	Weak transcription	Primary B cells from cord blood	blood
19	chr18:30294800-30306800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr18:30295400-30299600	Weak transcription	HepG2	liver
21	chr18:30299400-30301400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:30299600-30301200	Strong transcription	HepG2	liver
23	chr18:30299600-30305800	Strong transcription	Primary B cells from cord blood	blood
24	chr18:30300600-30301400	Enhancers	Fetal Heart	heart
25	chr18:30301200-30307800	Weak transcription	HepG2	liver
26	chr18:30301400-30304800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:30304200-30304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:30304800-30305600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:30305600-30307000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:30305600-30310000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:30305800-30308400	Weak transcription	Primary B cells from cord blood	blood

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