Variant report

Variant	esv3416446
Chromosome Location	chr8:120139571-120141469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150312944	chr8:120139600-120139601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188829522	chr8:120139605-120139606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571677393	chr8:120139616-120139617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193076220	chr8:120139621-120139622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370572732	chr8:120139622-120139623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530387052	chr8:120139625-120139626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184168998	chr8:120139649-120139650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538538487	chr8:120139652-120139653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555123872	chr8:120139677-120139678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543650875	chr8:120139695-120139696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144949217	chr8:120139743-120139744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578057961	chr8:120139761-120139762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188870838	chr8:120139799-120139800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560496010	chr8:120139805-120139806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527652060	chr8:120139806-120139807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549383907	chr8:120139807-120139808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561655327	chr8:120139808-120139809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558553241	chr8:120139833-120139834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149026084	chr8:120139883-120139884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550357749	chr8:120139894-120139895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1961996	chr8:120139895-120139896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs376207240	chr8:120139903-120139904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532255826	chr8:120139907-120139908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547052456	chr8:120139935-120139936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565418107	chr8:120139956-120139957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576113453	chr8:120139969-120139970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535870600	chr8:120140071-120140072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71569796	chr8:120140136-120140137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191115229	chr8:120140203-120140204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200277464	chr8:120140310-120140311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71569797	chr8:120140367-120140368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372470824	chr8:120140368-120140369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201779623	chr8:120140376-120140377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60052932	chr8:120140383-120140384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199864517	chr8:120140392-120140393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142243448	chr8:120140419-120140420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373822146	chr8:120140429-120140430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67542088	chr8:120140430-120140431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4523291	chr8:120140431-120140432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536909903	chr8:120140484-120140485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558722884	chr8:120140532-120140533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372610630	chr8:120140540-120140541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371243547	chr8:120140552-120140553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571389061	chr8:120140554-120140555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73327271	chr8:120140599-120140600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544293051	chr8:120140646-120140647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115649590	chr8:120140750-120140751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370168210	chr8:120140757-120140758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572550544	chr8:120140792-120140793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543082785	chr8:120140822-120140823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120134800-120141600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:120134800-120141600	Weak transcription	NHEK	skin
3	chr8:120134800-120141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:120134800-120147600	Weak transcription	HMEC	breast
5	chr8:120136600-120141600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:120139200-120139600	Enhancers	Fetal Brain Male	brain

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