Variant report

Variant	esv18465
Chromosome Location	chr6:48440355-48442495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2028715	chr6:48440380-48440381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566999526	chr6:48440387-48440388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562687097	chr6:48440405-48440406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184629395	chr6:48440425-48440426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189825329	chr6:48440444-48440445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77961442	chr6:48440449-48440450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2028714	chr6:48440456-48440457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs200210346	chr6:48440462-48440463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552331658	chr6:48440467-48440468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571857318	chr6:48440486-48440487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4461130	chr6:48440506-48440507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551206778	chr6:48440552-48440553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569458119	chr6:48440566-48440567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2028713	chr6:48440577-48440578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10948415	chr6:48440582-48440583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372374881	chr6:48440639-48440640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9463417	chr6:48440650-48440651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs111902452	chr6:48440678-48440679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199688810	chr6:48440716-48440717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67083680	chr6:48440717-48440718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398110097	chr6:48440720-48440721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398065776	chr6:48440721-48440722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550114747	chr6:48440727-48440728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539093996	chr6:48440791-48440792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552626340	chr6:48440827-48440828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs595548	chr6:48440850-48440851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541586452	chr6:48440875-48440876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141115598	chr6:48440930-48440931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369031821	chr6:48440950-48440951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181426345	chr6:48440978-48440979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561550498	chr6:48441008-48441009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541782238	chr6:48441010-48441011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374254182	chr6:48441061-48441062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9473379	chr6:48441067-48441068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377600046	chr6:48441116-48441117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6913568	chr6:48441221-48441222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564170981	chr6:48441226-48441227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532696415	chr6:48441271-48441272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6934005	chr6:48441315-48441316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs6933868	chr6:48441346-48441347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149855924	chr6:48441395-48441396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548897657	chr6:48441401-48441402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185905580	chr6:48441426-48441427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6934063	chr6:48441448-48441449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6934559	chr6:48441456-48441457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6934240	chr6:48441462-48441463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113068750	chr6:48441466-48441467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549550020	chr6:48441472-48441473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549811605	chr6:48441513-48441514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76573209	chr6:48441521-48441522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Autism	22495311	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
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48439200-48443600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:48440200-48441600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:48441800-48442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:48442000-48442400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:48442000-48444200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:48442000-48444200	Enhancers	NHEK	skin
7	chr6:48442400-48442600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:48442400-48442800	Enhancers	Fetal Lung	lung
9	chr6:48442400-48444200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:48442400-48444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:48442400-48444200	Enhancers	HMEC	breast

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