Variant report

Variant	nsv828170
Chromosome Location	chr18:7135584-7146632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 344 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540508083	chr18:7135615-7135616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1848893	chr18:7135632-7135633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532156926	chr18:7135708-7135709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61437164	chr18:7135709-7135710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562581264	chr18:7135724-7135725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8091736	chr18:7135763-7135764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs55663518	chr18:7135797-7135798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62082795	chr18:7135804-7135805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567838692	chr18:7135830-7135831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536576701	chr18:7135860-7135861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8091856	chr18:7135877-7135878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150654683	chr18:7135924-7135925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538662715	chr18:7135966-7135967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539890646	chr18:7136001-7136002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549759240	chr18:7136004-7136005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58186971	chr18:7136018-7136019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575334489	chr18:7136140-7136141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537942630	chr18:7136148-7136149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193241968	chr18:7136151-7136152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138024203	chr18:7136161-7136162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6506477	chr18:7136174-7136175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139906226	chr18:7136198-7136199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560414245	chr18:7136227-7136228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185682318	chr18:7136229-7136230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149168471	chr18:7136269-7136270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6506478	chr18:7136354-7136355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs6506479	chr18:7136389-7136390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75309586	chr18:7136399-7136400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541269427	chr18:7136447-7136448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548289919	chr18:7136458-7136459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561351661	chr18:7136463-7136464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559506618	chr18:7136480-7136481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534802861	chr18:7136488-7136489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530338045	chr18:7136491-7136492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149842862	chr18:7136492-7136493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145883875	chr18:7136506-7136507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374078591	chr18:7136526-7136527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543484637	chr18:7136560-7136561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190143645	chr18:7136565-7136566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13381962	chr18:7136569-7136570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs71354533	chr18:7136591-7136592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs63285761	chr18:7136604-7136605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577015547	chr18:7136618-7136619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545553025	chr18:7136622-7136623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181531847	chr18:7136638-7136639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199582276	chr18:7136642-7136643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555070574	chr18:7136649-7136650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7240402	chr18:7136650-7136651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7240403	chr18:7136656-7136657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375494547	chr18:7136667-7136668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7135000-7136400	Enhancers	Hela-S3	cervix
2	chr18:7135400-7135600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:7136400-7136600	Enhancers	Placenta	Placenta
4	chr18:7136400-7138000	Weak transcription	Hela-S3	cervix
5	chr18:7138000-7138800	Enhancers	Hela-S3	cervix
6	chr18:7143400-7143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:7143600-7146200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:7145800-7146400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:7146000-7146400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:7146000-7146400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:7146000-7146400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:7146000-7146400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:7146000-7146400	Enhancers	HMEC	breast
14	chr18:7146000-7146600	Enhancers	NHEK	skin
15	chr18:7146200-7146400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr18:7146200-7146400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:7146200-7147400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7146200-7148200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:7146400-7147400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:7146600-7147600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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