Variant report

Variant	nsv522804
Chromosome Location	chr18:382088-394946
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
2	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
3	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
4	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
5	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
6	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
7	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
8	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
9	chr18:387314..389519-chr18:391582..393434,2	K562	blood:

No data

Extended variants
information (count: 502 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16943586	chr18:382088-382089	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546854026	chr18:382111-382112	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140184412	chr18:382162-382163	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185219109	chr18:382212-382213	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556903830	chr18:382241-382242	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561873764	chr18:382258-382259	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1573317	chr18:382268-382269	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188830679	chr18:382273-382274	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201264429	chr18:382290-382291	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554264002	chr18:382297-382298	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149841316	chr18:382368-382369	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553198882	chr18:382434-382435	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578189273	chr18:382493-382494	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564434356	chr18:382496-382497	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115841632	chr18:382515-382516	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191770355	chr18:382517-382518	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145718751	chr18:382520-382521	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1573318	chr18:382565-382566	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552584082	chr18:382577-382578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565835784	chr18:382596-382597	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183981309	chr18:382597-382598	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528621511	chr18:382612-382613	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570006017	chr18:382617-382618	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148501726	chr18:382641-382642	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73356550	chr18:382644-382645	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532393855	chr18:382676-382677	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142888302	chr18:382682-382683	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72859262	chr18:382705-382706	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187297867	chr18:382743-382744	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34101262	chr18:382750-382751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190538424	chr18:382755-382756	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199796660	chr18:382765-382766	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71363212	chr18:382766-382767	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367921054	chr18:382768-382769	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566226915	chr18:382855-382856	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533680368	chr18:382874-382875	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568328745	chr18:382970-382971	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553111148	chr18:382982-382983	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181886960	chr18:382990-382991	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34787439	chr18:382994-382995	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185861573	chr18:383024-383025	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7233716	chr18:383047-383048	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7241234	chr18:383073-383074	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561309660	chr18:383174-383175	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573363851	chr18:383226-383227	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367715255	chr18:383228-383229	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540738484	chr18:383272-383273	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565044173	chr18:383292-383293	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7234186	chr18:383336-383337	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs550817601	chr18:383388-383389	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:379000-382400	Weak transcription	NHDF-Ad	bronchial
4	chr18:379000-393800	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:380000-390400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:380200-389800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:381000-382200	Weak transcription	Fetal Lung	lung
8	chr18:381400-382200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr18:381400-382600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr18:381800-382600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr18:381800-383200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:382000-382400	Weak transcription	Colon Smooth Muscle	Colon
13	chr18:382000-382800	Enhancers	Rectal Smooth Muscle	rectum
14	chr18:382000-383200	Enhancers	Fetal Stomach	stomach
15	chr18:382000-384200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:382200-382400	Enhancers	Fetal Lung	lung
17	chr18:382400-382800	Weak transcription	Fetal Lung	lung
18	chr18:382400-383000	Enhancers	Colon Smooth Muscle	Colon
19	chr18:382400-383800	Enhancers	NHDF-Ad	bronchial
20	chr18:382600-384200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr18:382800-383000	Enhancers	Fetal Lung	lung
22	chr18:383000-383200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:383000-384800	Weak transcription	Fetal Lung	lung
24	chr18:383200-392000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:383200-393600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:383800-384200	Weak transcription	NHDF-Ad	bronchial
27	chr18:384200-384600	ZNF genes & repeats	NHDF-Ad	bronchial
28	chr18:384200-385200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:384200-385200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr18:384400-385000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:384600-385000	Enhancers	Fetal Kidney	kidney
32	chr18:384600-392600	Weak transcription	NHDF-Ad	bronchial
33	chr18:384800-385200	Enhancers	Fetal Lung	lung
34	chr18:385000-385800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:385000-388000	Weak transcription	Fetal Kidney	kidney
36	chr18:385200-385600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr18:385200-389400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:385200-389600	Weak transcription	Fetal Lung	lung
39	chr18:385600-386800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr18:385800-387000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:386000-387000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr18:386000-387000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr18:386200-387400	Enhancers	Fetal Muscle Leg	muscle
44	chr18:386800-390600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr18:387000-389600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr18:387000-390200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr18:387000-395600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:387400-388200	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:388200-388800	Strong transcription	Fetal Muscle Leg	muscle
50	chr18:388800-389000	Enhancers	Lung	lung

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