Variant report

Variant	esv3365597
Chromosome Location	chr18:8207150-8210443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs567528349	chr18:8207154-8207155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7233623	chr18:8207160-8207161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3886863	chr18:8207219-8207220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571692571	chr18:8207232-8207233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386800936	chr18:8207243-8207244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4597385	chr18:8207244-8207245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112020967	chr18:8207251-8207252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151149205	chr18:8207281-8207282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115598905	chr18:8207319-8207320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182796062	chr18:8207381-8207382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550175085	chr18:8207444-8207445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs722973	chr18:8207445-8207446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570003409	chr18:8207496-8207497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76364563	chr18:8207498-8207499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556714268	chr18:8207506-8207507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140058579	chr18:8207544-8207545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544643038	chr18:8207587-8207588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76850216	chr18:8207598-8207599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146463002	chr18:8207649-8207650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185272210	chr18:8207661-8207662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542793321	chr18:8207717-8207718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140892749	chr18:8207727-8207728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12605817	chr18:8207791-8207792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377249100	chr18:8207807-8207808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549813484	chr18:8207812-8207813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190964163	chr18:8207854-8207855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548056255	chr18:8207876-8207877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144785820	chr18:8207877-8207878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538671436	chr18:8207883-8207884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566158703	chr18:8207893-8207894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2159954	chr18:8207902-8207903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548733967	chr18:8207933-8207934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138559633	chr18:8207955-8207956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182861277	chr18:8207965-8207966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148908539	chr18:8207977-8207978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143584302	chr18:8208009-8208010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538224273	chr18:8208041-8208042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376989312	chr18:8208078-8208079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148055554	chr18:8208093-8208094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571776150	chr18:8208115-8208116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114016867	chr18:8208140-8208141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561093317	chr18:8208144-8208145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576167238	chr18:8208159-8208160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2110173	chr18:8208163-8208164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535779624	chr18:8208169-8208170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565176970	chr18:8208271-8208272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532478255	chr18:8208288-8208289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376668128	chr18:8208296-8208297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188640855	chr18:8208305-8208306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549285092	chr18:8208322-8208323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
4	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
5	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:8191800-8211800	Weak transcription	Left Ventricle	heart
10	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
11	chr18:8196800-8215000	Weak transcription	Thymus	Thymus
12	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:8200600-8211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8204400-8212000	Weak transcription	Fetal Heart	heart
15	chr18:8204400-8214600	Weak transcription	Fetal Stomach	stomach
16	chr18:8205600-8225600	Weak transcription	Lung	lung
17	chr18:8206800-8208800	Weak transcription	Right Ventricle	heart
18	chr18:8207400-8211800	Weak transcription	Hela-S3	cervix
19	chr18:8208600-8224200	Weak transcription	A549	lung
20	chr18:8208800-8209400	Enhancers	Right Ventricle	heart
21	chr18:8209200-8209400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:8209400-8211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:8209800-8212200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:8210200-8210400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:8210200-8213000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:8210200-8214200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:8210400-8212800	Weak transcription	Fetal Thymus	thymus
28	chr18:8210400-8217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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