Variant report

Variant	nsv960225
Chromosome Location	chr18:39520220-39521420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139506885	chr18:39520259-39520260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs9635941	chr18:39520274-39520275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371633705	chr18:39520275-39520276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78711695	chr18:39520284-39520285	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532088063	chr18:39520303-39520304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187207159	chr18:39520324-39520325	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547505916	chr18:39520343-39520344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559683612	chr18:39520356-39520357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547953110	chr18:39520410-39520411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530366596	chr18:39520411-39520412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145569761	chr18:39520420-39520421	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147711859	chr18:39520425-39520426	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537412901	chr18:39520430-39520431	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552581440	chr18:39520510-39520511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570858403	chr18:39520586-39520587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534797708	chr18:39520590-39520591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142638806	chr18:39520600-39520601	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572098992	chr18:39520645-39520646	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536052595	chr18:39520668-39520669	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190824309	chr18:39520728-39520729	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182831975	chr18:39520736-39520737	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543341985	chr18:39520754-39520755	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558254994	chr18:39520767-39520768	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369683314	chr18:39520778-39520779	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186473044	chr18:39520787-39520788	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144882087	chr18:39520788-39520789	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190173728	chr18:39520910-39520911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530280494	chr18:39520920-39520921	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115653863	chr18:39520935-39520936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576819483	chr18:39520937-39520938	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182539882	chr18:39520943-39520944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9783882	chr18:39520957-39520958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187590770	chr18:39520984-39520985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552873327	chr18:39520985-39520986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28579299	chr18:39521011-39521012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191964213	chr18:39521024-39521025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375906721	chr18:39521050-39521051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs77128493	chr18:39521059-39521060	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149132175	chr18:39521072-39521073	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375572055	chr18:39521087-39521088	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368842250	chr18:39521102-39521103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536011007	chr18:39521141-39521142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554322970	chr18:39521158-39521159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs569549568	chr18:39521175-39521176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs533629203	chr18:39521179-39521180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs118093774	chr18:39521185-39521186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79816215	chr18:39521188-39521189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541033457	chr18:39521191-39521192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570347682	chr18:39521202-39521203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11877901	chr18:39521225-39521226	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39515800-39521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:39516000-39521400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:39516000-39521600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:39517400-39522400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:39517600-39521400	Enhancers	HSMMtube	muscle
6	chr18:39517600-39521400	Enhancers	NHLF	lung
7	chr18:39517600-39521400	Enhancers	Osteobl	bone
8	chr18:39517800-39522800	Weak transcription	GM12878-XiMat	blood
9	chr18:39518000-39521400	Enhancers	HSMM	muscle
10	chr18:39518000-39521600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:39518200-39521400	Enhancers	NHDF-Ad	bronchial
12	chr18:39518400-39520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:39518600-39521400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:39519000-39521400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:39519400-39521200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:39519400-39521400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr18:39519600-39520400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:39520000-39521000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:39520000-39521200	Enhancers	HMEC	breast
20	chr18:39520200-39520400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:39520200-39520800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr18:39520200-39521000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr18:39520200-39521000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:39520200-39521000	Enhancers	NHEK	skin
25	chr18:39520200-39521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:39520200-39521200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:39520200-39521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:39520200-39521400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr18:39520200-39521400	Flanking Active TSS	NH-A	brain
30	chr18:39520400-39520800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr18:39520400-39520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:39520400-39521000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:39520400-39524200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:39520600-39520800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr18:39520600-39521000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr18:39520800-39521200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:39520800-39521600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:39520800-39523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:39521400-39521600	Enhancers	NH-A	brain

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