Variant report

Variant	nsv820206
Chromosome Location	chr18:7144240-7146923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548742903	chr18:7144254-7144255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12456230	chr18:7144347-7144348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141060103	chr18:7144360-7144361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12455679	chr18:7144361-7144362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534292464	chr18:7144386-7144387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372999085	chr18:7144392-7144393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191972596	chr18:7144393-7144394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184395187	chr18:7144400-7144401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189413936	chr18:7144402-7144403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539650828	chr18:7144403-7144404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556717350	chr18:7144424-7144425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576706528	chr18:7144440-7144441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542281052	chr18:7144442-7144443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181377443	chr18:7144444-7144445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184333647	chr18:7144453-7144454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149433223	chr18:7144479-7144480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564578191	chr18:7144486-7144487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533418811	chr18:7144488-7144489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189618115	chr18:7144509-7144510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145457273	chr18:7144514-7144515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12326564	chr18:7144536-7144537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563488224	chr18:7144540-7144541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367852900	chr18:7144546-7144547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12326565	chr18:7144547-7144548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367787805	chr18:7144548-7144549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575809644	chr18:7144551-7144552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181877877	chr18:7144563-7144564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549282540	chr18:7144576-7144577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186517832	chr18:7144578-7144579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528085739	chr18:7144592-7144593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550916496	chr18:7144614-7144615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73378863	chr18:7144620-7144621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71360070	chr18:7144744-7144745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200355850	chr18:7144750-7144751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76884922	chr18:7144752-7144753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5822948	chr18:7144757-7144758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62082796	chr18:7144785-7144786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144024911	chr18:7144820-7144821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143847073	chr18:7144832-7144833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550143235	chr18:7144835-7144836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56993642	chr18:7144840-7144841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570207628	chr18:7144917-7144918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535644234	chr18:7144928-7144929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556108589	chr18:7144929-7144930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75530806	chr18:7144953-7144954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140847743	chr18:7144992-7144993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535019198	chr18:7145002-7145003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148617091	chr18:7145009-7145010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578065604	chr18:7145036-7145037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56000044	chr18:7145049-7145050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:14 , 50 per page) page: 1

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

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