Variant report

Variant	esv3371434
Chromosome Location	chr8:125757721-125759169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125739372..125742267-chr8:125758626..125761632,3	MCF-7	breast:
2	chr8:125758805..125762963-chr8:125825866..125829295,4	K562	blood:
3	chr8:125755220..125757743-chr8:125826134..125827699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	chromatin interactions
ENSG00000170873	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573899808	chr8:125757743-125757744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370637043	chr8:125757753-125757754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10956205	chr8:125757758-125757759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10956206	chr8:125757781-125757782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79082040	chr8:125757806-125757807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551135042	chr8:125757820-125757821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11783027	chr8:125757853-125757854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527353836	chr8:125757871-125757872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11783029	chr8:125757872-125757873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567440829	chr8:125757899-125757900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372761708	chr8:125757904-125757905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536466083	chr8:125757944-125757945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374462689	chr8:125757945-125757946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113165043	chr8:125757953-125757954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569992873	chr8:125757965-125757966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371378336	chr8:125757975-125757976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145104115	chr8:125757979-125757980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11783009	chr8:125757982-125757983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11783011	chr8:125757986-125757987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368514641	chr8:125757988-125757989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372849619	chr8:125757992-125757993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7843854	chr8:125757993-125757994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7843855	chr8:125757994-125757995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369352942	chr8:125758018-125758019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559630950	chr8:125758036-125758037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7843960	chr8:125758039-125758040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57032388	chr8:125758040-125758041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11776126	chr8:125758041-125758042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185220918	chr8:125758042-125758043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141670984	chr8:125758043-125758044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538237586	chr8:125758047-125758048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143746321	chr8:125758059-125758060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377758392	chr8:125758061-125758062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71510320	chr8:125758062-125758063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201992494	chr8:125758064-125758065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146122966	chr8:125758088-125758089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554347404	chr8:125758106-125758107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533991159	chr8:125758110-125758111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189739475	chr8:125758125-125758126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67551436	chr8:125758133-125758134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542850023	chr8:125758160-125758161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7844119	chr8:125758202-125758203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374087995	chr8:125758307-125758308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183066431	chr8:125758337-125758338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564677841	chr8:125758420-125758421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72443309	chr8:125758449-125758450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377675006	chr8:125758472-125758473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544295443	chr8:125758474-125758475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538228822	chr8:125758478-125758479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373993962	chr8:125758490-125758491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
Acute myeloid leukemia	20729466	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125755600-125761000	Weak transcription	Stomach Mucosa	stomach
2	chr8:125756000-125761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125756000-125761000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125756000-125763800	Weak transcription	Osteobl	bone
7	chr8:125756200-125760800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:125756200-125761000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:125757400-125759800	Weak transcription	Fetal Heart	heart

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