Variant report

Variant	esv3481079
Chromosome Location	chr8:120152571-120157869
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	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs56095688	chr8:120152611-120152612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553648414	chr8:120152616-120152617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573305895	chr8:120152668-120152669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189033414	chr8:120152690-120152691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562194352	chr8:120152693-120152694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13262749	chr8:120152703-120152704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116382632	chr8:120152713-120152714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9764154	chr8:120152729-120152730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553843888	chr8:120152750-120152751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563215466	chr8:120152760-120152761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542076339	chr8:120152770-120152771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9675928	chr8:120152772-120152773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193138460	chr8:120152798-120152799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9716734	chr8:120152820-120152821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552007251	chr8:120152835-120152836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139840209	chr8:120152840-120152841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34795016	chr8:120152841-120152842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527398379	chr8:120152929-120152930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561965018	chr8:120152944-120152945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548840849	chr8:120152950-120152951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77155491	chr8:120152981-120152982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76766858	chr8:120153007-120153008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12044008	chr8:120153012-120153013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76751554	chr8:120153019-120153020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567334315	chr8:120153040-120153041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80070970	chr8:120153044-120153045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76361707	chr8:120153046-120153047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537496717	chr8:120153051-120153052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184399641	chr8:120153053-120153054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13270597	chr8:120153062-120153063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77340803	chr8:120153088-120153089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575929360	chr8:120153093-120153094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78110663	chr8:120153095-120153096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76307769	chr8:120153104-120153105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75389233	chr8:120153110-120153111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79005896	chr8:120153122-120153123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9764793	chr8:120153124-120153125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575196	chr8:120153127-120153128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575244	chr8:120153144-120153145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572179169	chr8:120153169-120153170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7843851	chr8:120153170-120153171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555627381	chr8:120153172-120153173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36131692	chr8:120153192-120153193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543342072	chr8:120153227-120153228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376558763	chr8:120153228-120153229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189276199	chr8:120153311-120153312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13271541	chr8:120153372-120153373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs578255657	chr8:120153380-120153381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191364113	chr8:120153382-120153383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112678890	chr8:120153400-120153401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120148000-120156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120148600-120155400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
4	chr8:120155400-120156600	Enhancers	Fetal Intestine Small	intestine
5	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
7	chr8:120155800-120156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120155800-120158000	Enhancers	NHEK	skin
9	chr8:120156000-120156400	Enhancers	Fetal Lung	lung
10	chr8:120156000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:120156000-120156400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:120156000-120156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:120156400-120156800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
17	chr8:120156600-120157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:120156600-120157200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:120157000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:120157200-120157800	Enhancers	Fetal Intestine Small	intestine
23	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
25	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum

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