Variant report

Variant	esv3380092
Chromosome Location	chr8:125756612-125758734
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	chr8:125755220..125757743-chr8:125826134..125827699,2	MCF-7	breast:
3	chr8:125751576..125753119-chr8:125754133..125756960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199659151	chr8:125756648-125756649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530357801	chr8:125756679-125756680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4412352	chr8:125756683-125756684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145922339	chr8:125756687-125756688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55736426	chr8:125756706-125756707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533765081	chr8:125756714-125756715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182057486	chr8:125756715-125756716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184955830	chr8:125756749-125756750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542232000	chr8:125756836-125756837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138873733	chr8:125756859-125756860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575712476	chr8:125756866-125756867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34431489	chr8:125756875-125756876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372212324	chr8:125756876-125756877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544664647	chr8:125756892-125756893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77412685	chr8:125757043-125757044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188889012	chr8:125757063-125757064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533553097	chr8:125757074-125757075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182069108	chr8:125757089-125757090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186226747	chr8:125757114-125757115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113739276	chr8:125757127-125757128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55715524	chr8:125757149-125757150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77591180	chr8:125757263-125757264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549275432	chr8:125757295-125757296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562100471	chr8:125757302-125757303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531231243	chr8:125757373-125757374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551423799	chr8:125757398-125757399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10091909	chr8:125757418-125757419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533985366	chr8:125757421-125757422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191572799	chr8:125757454-125757455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10956204	chr8:125757487-125757488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540283689	chr8:125757494-125757495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536500998	chr8:125757503-125757504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10091760	chr8:125757517-125757518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575673823	chr8:125757538-125757539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537885806	chr8:125757543-125757544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558208717	chr8:125757557-125757558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372971070	chr8:125757567-125757568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568106661	chr8:125757588-125757589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532363476	chr8:125757594-125757595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11775356	chr8:125757646-125757647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs150686562	chr8:125757720-125757721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573899808	chr8:125757743-125757744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370637043	chr8:125757753-125757754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10956205	chr8:125757758-125757759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10956206	chr8:125757781-125757782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79082040	chr8:125757806-125757807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551135042	chr8:125757820-125757821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11783027	chr8:125757853-125757854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527353836	chr8:125757871-125757872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11783029	chr8:125757872-125757873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:10 , 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	chr8:125756600-125757400	Enhancers	Fetal Heart	heart
10	chr8:125757400-125759800	Weak transcription	Fetal Heart	heart

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