Variant report

Variant	esv11888
Chromosome Location	chr6:45768255-45768945
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	chr6:45766362..45769153-chr8:127769934..127772143,2	MCF-7	breast:
2	chr6:45768754..45770265-chr6:45772122..45774258,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113933892	chr6:45768255-45768256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139979157	chr6:45768256-45768257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1375690	chr6:45768268-45768269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560421847	chr6:45768270-45768271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527781894	chr6:45768304-45768305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546416741	chr6:45768315-45768316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564721475	chr6:45768355-45768356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2396557	chr6:45768367-45768368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535001106	chr6:45768379-45768380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11754242	chr6:45768386-45768387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143865888	chr6:45768416-45768417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548161453	chr6:45768428-45768429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4349810	chr6:45768429-45768430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs191109088	chr6:45768431-45768432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559231274	chr6:45768443-45768444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577530503	chr6:45768479-45768480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538414309	chr6:45768487-45768488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147241500	chr6:45768500-45768501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575037328	chr6:45768547-45768548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542679738	chr6:45768549-45768550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184021698	chr6:45768562-45768563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11754286	chr6:45768574-45768575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545907806	chr6:45768641-45768642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564210603	chr6:45768643-45768644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9296468	chr6:45768684-45768685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190018373	chr6:45768690-45768691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562678768	chr6:45768698-45768699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181276035	chr6:45768705-45768706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9463120	chr6:45768706-45768707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9472568	chr6:45768722-45768723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527246812	chr6:45768732-45768733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552323698	chr6:45768746-45768747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139674353	chr6:45768757-45768758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538450865	chr6:45768760-45768761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115728631	chr6:45768774-45768775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187095256	chr6:45768784-45768785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9472569	chr6:45768791-45768792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs34527600	chr6:45768796-45768797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201537227	chr6:45768797-45768798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9472570	chr6:45768804-45768805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116691558	chr6:45768811-45768812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114164801	chr6:45768814-45768815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189933516	chr6:45768819-45768820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576116592	chr6:45768833-45768834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374230280	chr6:45768841-45768842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544127964	chr6:45768878-45768879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9472571	chr6:45768935-45768936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45763600-45780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45767800-45770200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:45768200-45776000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:45768400-45770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:45768600-45769600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:45768800-45769400	Enhancers	Adipose Nuclei	Adipose
7	chr6:45768800-45770000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:45768800-45770000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:45768800-45770000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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