Variant report

Variant	nsv1056190
Chromosome Location	chr18:28076687-28115014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28087276..28089065-chr18:28089439..28091705,2	K562	blood:
2	chr18:28075165..28077234-chr18:28080274..28082674,2	K562	blood:
3	chr18:28099910..28101653-chr18:28108977..28111584,2	K562	blood:
4	chr18:28081832..28084530-chr18:28093008..28095760,2	K562	blood:
5	chr18:28081832..28084530-chr18:28093008..28095760,2	K562	blood:
6	chr18:28087276..28089065-chr18:28089439..28091705,2	K562	blood:
7	chr18:28099910..28101653-chr18:28108977..28111584,2	K562	blood:
8	chr18:28082947..28085380-chr18:28263743..28265731,2	K562	blood:
9	chr18:28105708..28108080-chr18:28121048..28123781,2	K562	blood:
10	chr18:28075165..28077234-chr18:28080274..28082674,2	K562	blood:

No data

Extended variants
information (count: 582 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:582 , 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	rs369221065	chr18:28092800-28092801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114809000	chr18:28092834-28092835	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73415606	chr18:28092849-28092850	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558171352	chr18:28092864-28092865	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62078326	chr18:28092920-28092921	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs62078327	chr18:28092986-28092987	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560444641	chr18:28093014-28093015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62078328	chr18:28093027-28093028	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138830005	chr18:28093053-28093054	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79375040	chr18:28093055-28093056	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142039482	chr18:28093062-28093063	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8089712	chr18:28093090-28093091	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62078329	chr18:28093134-28093135	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192515907	chr18:28093145-28093146	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577856136	chr18:28093173-28093174	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545239815	chr18:28093197-28093198	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372964988	chr18:28093268-28093269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567196638	chr18:28093274-28093275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527965982	chr18:28093287-28093288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144709303	chr18:28093322-28093323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183790206	chr18:28093352-28093353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148113573	chr18:28093353-28093354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556294018	chr18:28093397-28093398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568155786	chr18:28093412-28093413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9949662	chr18:28093460-28093461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189302008	chr18:28093467-28093468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572332523	chr18:28093478-28093479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9949669	chr18:28093484-28093485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557598012	chr18:28093501-28093502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181335453	chr18:28093525-28093526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111328603	chr18:28093621-28093622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78089900	chr18:28093653-28093654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1596266	chr18:28093656-28093657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562150548	chr18:28093664-28093665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530129956	chr18:28093665-28093666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386802048	chr18:28093746-28093747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141929694	chr18:28093747-28093748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12457734	chr18:28093748-28093749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552602951	chr18:28093753-28093754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184781547	chr18:28093794-28093795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535588442	chr18:28099015-28099016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181913627	chr18:28099024-28099025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571998747	chr18:28099052-28099053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533965265	chr18:28099054-28099055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72918953	chr18:28099070-28099071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576798017	chr18:28099119-28099120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114675370	chr18:28099197-28099198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115054596	chr18:28099211-28099212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574939283	chr18:28099221-28099222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10163565	chr18:28099281-28099282	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28092800-28093000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:28092800-28093200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:28092800-28093800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr18:28093000-28093600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:28099000-28099400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:28099000-28099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr18:28099000-28099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:28099000-28102200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:28099000-28103400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:28099200-28099400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr18:28099200-28099400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr18:28099400-28100400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:28099400-28100600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:28099400-28100800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:28099400-28101400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:28099600-28100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:28100400-28103800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr18:28100600-28100800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:28100600-28102000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:28100800-28101000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:28100800-28101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:28101000-28101400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr18:28101000-28101800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:28101200-28103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr18:28101400-28102000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:28101400-28102400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr18:28101400-28102600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr18:28101400-28102600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr18:28101800-28102600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr18:28101800-28102600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:28102000-28102200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr18:28102000-28102600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr18:28102200-28102400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr18:28102200-28102400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr18:28102400-28102600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr18:28102400-28102800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr18:28102400-28103000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr18:28102600-28103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:28102600-28103600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr18:28102600-28103800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr18:28102600-28107200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:28102600-28107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:28102800-28103600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr18:28103000-28103200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr18:28103000-28103400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr18:28103200-28103800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr18:28103600-28107000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:28103800-28106800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr18:28103800-28107000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr18:28103800-28107000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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