Variant report

Variant	nsv1058084
Chromosome Location	chr18:25355165-25383779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
2	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:
3	chr18:25347523..25349302-chr18:25369021..25370534,2	MCF-7	breast:
4	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:

Extended variants
information (count: 793 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151103753	chr18:25355237-25355238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116585604	chr18:25355259-25355260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373155849	chr18:25355261-25355262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1893942	chr18:25355266-25355267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187776834	chr18:25355286-25355287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192558482	chr18:25355291-25355292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563851570	chr18:25355337-25355338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185038090	chr18:25355397-25355398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549871511	chr18:25355404-25355405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199886375	chr18:25355424-25355425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564990497	chr18:25355441-25355442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188195449	chr18:25355468-25355469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141054379	chr18:25355493-25355494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13381028	chr18:25355500-25355501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181052998	chr18:25355579-25355580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28697896	chr18:25355589-25355590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557557182	chr18:25355599-25355600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569484984	chr18:25355645-25355646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9962931	chr18:25355647-25355648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2714371	chr18:25355650-25355651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573953917	chr18:25355658-25355659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139175410	chr18:25355659-25355660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553078629	chr18:25355695-25355696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141625079	chr18:25355703-25355704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545689208	chr18:25355746-25355747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147048989	chr18:25355789-25355790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184848613	chr18:25355798-25355799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543547918	chr18:25355809-25355810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114745762	chr18:25355812-25355813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528969220	chr18:25355838-25355839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2714372	chr18:25355860-25355861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551959252	chr18:25355945-25355946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149552714	chr18:25356001-25356002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566496033	chr18:25356006-25356007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189607077	chr18:25356012-25356013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144614819	chr18:25356019-25356020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73947836	chr18:25356039-25356040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181699490	chr18:25356056-25356057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13381203	chr18:25356088-25356089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567783158	chr18:25356158-25356159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13381896	chr18:25356190-25356191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553353850	chr18:25356265-25356266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548560341	chr18:25356298-25356299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13381176	chr18:25356327-25356328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185933665	chr18:25356367-25356368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576007799	chr18:25356378-25356379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76048993	chr18:25356405-25356406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190638419	chr18:25356409-25356410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573704954	chr18:25356410-25356411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148053232	chr18:25356456-25356457	Weak 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
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25352400-25359600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:25355000-25355200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:25357800-25358200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr18:25357800-25359000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:25357800-25359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:25358000-25358200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25358000-25358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:25358000-25358400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr18:25358000-25358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:25358200-25359600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:25358400-25358600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr18:25358400-25359600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:25358400-25360000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:25358600-25358800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr18:25358600-25359800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:25358600-25359800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr18:25358800-25359000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr18:25358800-25359200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:25359000-25359800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:25359000-25360000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:25359200-25359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:25359400-25360200	Enhancers	NH-A	brain
23	chr18:25359400-25360800	Enhancers	Osteobl	bone
24	chr18:25359600-25359800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr18:25359600-25360200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:25359600-25360200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr18:25359800-25360000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr18:25360000-25360200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr18:25360000-25360200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:25360200-25360400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr18:25360200-25363600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:25360400-25361400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr18:25360600-25361000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:25363400-25363800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:25363600-25363800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:25363600-25364000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:25363800-25364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:25363800-25365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:25364000-25366000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:25364400-25364600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:25364600-25365600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:25365600-25366600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:25365600-25367000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:25365800-25366000	Enhancers	Brain Anterior Caudate	brain
45	chr18:25365800-25366400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:25365800-25366400	Active TSS	Brain Cingulate Gyrus	brain
47	chr18:25365800-25366400	Enhancers	Fetal Muscle Trunk	muscle
48	chr18:25365800-25366400	Enhancers	Lung	lung
49	chr18:25365800-25366600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:25365800-25366600	Enhancers	Cortex derived primary cultured neurospheres	brain

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