Variant report

Variant	esv989101
Chromosome Location	chr6:45690028-45692404
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	chr6:45575650..45578473-chr6:45689555..45692241,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147644105	chr6:45690034-45690035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77811448	chr6:45690035-45690036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71793535	chr6:45690044-45690045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28714991	chr6:45690045-45690046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199952515	chr6:45690048-45690049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77152957	chr6:45690051-45690052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74945296	chr6:45690055-45690056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12194392	chr6:45690065-45690066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78159021	chr6:45690153-45690154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577465157	chr6:45690196-45690197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182626765	chr6:45690212-45690213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562700670	chr6:45690223-45690224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6914396	chr6:45690246-45690247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548251201	chr6:45690270-45690271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75132904	chr6:45690309-45690310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199678191	chr6:45690317-45690318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560195433	chr6:45690477-45690478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111530344	chr6:45690503-45690504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141331005	chr6:45690578-45690579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571519118	chr6:45690662-45690663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538513976	chr6:45690714-45690715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550564411	chr6:45690750-45690751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568841506	chr6:45690787-45690788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536231868	chr6:45690864-45690865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554739493	chr6:45690900-45690901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115009375	chr6:45690950-45690951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191585930	chr6:45690979-45690980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371631637	chr6:45691033-45691034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9349325	chr6:45691049-45691050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs147411563	chr6:45691054-45691055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138132167	chr6:45691075-45691076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531749274	chr6:45691096-45691097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182514664	chr6:45691121-45691122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73448603	chr6:45691129-45691130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560256435	chr6:45691132-45691133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369558020	chr6:45691133-45691134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548493647	chr6:45691136-45691137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187472505	chr6:45691169-45691170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143592278	chr6:45691195-45691196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373936462	chr6:45691202-45691203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558387245	chr6:45691237-45691238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550627175	chr6:45691261-45691262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569157714	chr6:45691291-45691292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375344674	chr6:45691326-45691327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578119250	chr6:45691331-45691332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529756012	chr6:45691382-45691383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548205422	chr6:45691407-45691408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147168962	chr6:45691428-45691429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372630050	chr6:45691439-45691440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533613144	chr6:45691441-45691442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
lymphocytic leukemia	21291569	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45682200-45690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:45682800-45690400	Weak transcription	NHEK	skin
3	chr6:45684600-45690200	Weak transcription	HMEC	breast
4	chr6:45684800-45690200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:45687000-45690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:45687200-45692400	Weak transcription	HSMMtube	muscle
7	chr6:45687400-45690200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:45687400-45692200	Weak transcription	NHDF-Ad	bronchial
9	chr6:45687600-45692400	Weak transcription	Osteobl	bone
10	chr6:45690200-45690800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:45690200-45691000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:45690200-45691200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:45690200-45691200	Enhancers	HMEC	breast
14	chr6:45690400-45691200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:45690400-45691200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:45690400-45691200	Enhancers	NHEK	skin
17	chr6:45690600-45690800	Enhancers	Fetal Muscle Leg	muscle
18	chr6:45691200-45692200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:45691200-45692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:45691200-45692200	Weak transcription	NHEK	skin
21	chr6:45691200-45692400	Weak transcription	HMEC	breast
22	chr6:45691400-45692400	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:45692200-45692800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:45692200-45692800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:45692200-45692800	Enhancers	NHEK	skin
26	chr6:45692200-45693000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:45692200-45693000	Enhancers	NHDF-Ad	bronchial
28	chr6:45692400-45692600	Enhancers	Fetal Muscle Leg	muscle
29	chr6:45692400-45692800	Enhancers	Fetal Heart	heart
30	chr6:45692400-45692800	Enhancers	Fetal Lung	lung
31	chr6:45692400-45692800	Enhancers	HMEC	breast
32	chr6:45692400-45692800	Enhancers	HSMMtube	muscle
33	chr6:45692400-45692800	Enhancers	Osteobl	bone
34	chr6:45692400-45693000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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