Variant report

Variant	nsv2242
Chromosome Location	chr18:28014039-28059387
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28018586..28020882-chr18:28024384..28026513,2	K562	blood:
2	chr18:28059319..28061879-chr18:28063382..28065057,2	K562	blood:
3	chr18:28018586..28020882-chr18:28024384..28026513,2	K562	blood:
4	chr11:62608441..62609098-chr18:28038250..28038750,2	Hela-S3	cervix:
5	chr18:28012318..28014586-chr18:28017843..28020751,2	K562	blood:
6	chr18:28037169..28038944-chr18:28041671..28043739,2	K562	blood:
7	chr18:28012318..28014586-chr18:28017843..28020751,2	K562	blood:
8	chr18:28037169..28038944-chr18:28041671..28043739,2	K562	blood:
9	chr18:28024534..28026953-chr18:28028967..28030712,2	K562	blood:
10	chr18:28013859..28016502-chr18:28028826..28031550,2	K562	blood:
11	chr18:28013859..28016502-chr18:28028826..28031550,2	K562	blood:
12	chr18:28024534..28026953-chr18:28028967..28030712,2	K562	blood:

No data

Extended variants
information (count: 781 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:781 , 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	rs536256025	chr18:28019015-28019016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554563317	chr18:28019093-28019094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536780135	chr18:28019133-28019134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566587077	chr18:28019153-28019154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149530344	chr18:28019175-28019176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558345116	chr18:28019181-28019182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34154385	chr18:28019191-28019192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73953539	chr18:28019202-28019203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1442982	chr18:28019208-28019209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138203599	chr18:28019221-28019222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191179238	chr18:28019289-28019290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184058841	chr18:28019307-28019308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1596265	chr18:28019367-28019368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142719580	chr18:28019379-28019380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115410142	chr18:28019385-28019386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35710017	chr18:28019392-28019393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539983891	chr18:28019414-28019415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555887163	chr18:28019420-28019421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565088244	chr18:28019449-28019450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146060050	chr18:28019456-28019457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532788883	chr18:28019458-28019459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550849005	chr18:28019483-28019484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563183266	chr18:28019491-28019492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62079977	chr18:28019502-28019503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544407611	chr18:28019577-28019578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188374610	chr18:28026803-28026804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1899535	chr18:28026806-28026807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533947453	chr18:28026816-28026817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1899536	chr18:28026898-28026899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs570977570	chr18:28026904-28026905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59606645	chr18:28026924-28026925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556677421	chr18:28026944-28026945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374244349	chr18:28026945-28026946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8086427	chr18:28026952-28026953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143618814	chr18:28026966-28026967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4101121	chr18:28026972-28026973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573617807	chr18:28026974-28026975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572666180	chr18:28027015-28027016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16948070	chr18:28027026-28027027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560518790	chr18:28027078-28027079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563768758	chr18:28027091-28027092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61391012	chr18:28027095-28027096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543155999	chr18:28027113-28027114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561446634	chr18:28027116-28027117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529083720	chr18:28027134-28027135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547526782	chr18:28027156-28027157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372794452	chr18:28027159-28027160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180741464	chr18:28027216-28027217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376001760	chr18:28027240-28027241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1442983	chr18:28027265-28027266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28019000-28019600	Enhancers	K562	blood
2	chr18:28026800-28027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:28026800-28027800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr18:28026800-28027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr18:28026800-28028200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:28027400-28027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr18:28027400-28028000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:28028000-28029000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:28029200-28029800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr18:28029800-28030800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:28030800-28031400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr18:28031000-28031200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:28031000-28031400	Enhancers	Fetal Brain Male	brain
14	chr18:28031400-28032400	Weak transcription	Fetal Brain Male	brain
15	chr18:28031800-28032000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:28032600-28032800	Enhancers	Fetal Brain Male	brain
17	chr18:28032600-28033600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:28033600-28036400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:28035000-28035200	Enhancers	Brain Cingulate Gyrus	brain
20	chr18:28035000-28035400	Enhancers	Brain Anterior Caudate	brain
21	chr18:28035000-28035400	Enhancers	Brain Substantia Nigra	brain
22	chr18:28035600-28036000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:28035800-28036000	Enhancers	Brain Cingulate Gyrus	brain
24	chr18:28036000-28036400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr18:28036400-28037200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:28037200-28037400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:28037400-28044200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:28042400-28042800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr18:28044200-28045800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:28044400-28045000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:28044800-28045600	Enhancers	Brain Substantia Nigra	brain
32	chr18:28044800-28045600	Enhancers	Fetal Lung	lung
33	chr18:28045000-28045600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr18:28056200-28056800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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