Variant report

Variant	esv3322488
Chromosome Location	chr6:49526543-49527591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49526080..49527915-chr6:49540852..49542648,2	MCF-7	breast:
2	chr6:49526761..49530861-chr6:49531152..49534761,4	MCF-7	breast:
3	chr6:49524843..49527402-chr6:49563195..49565478,2	MCF-7	breast:
4	chr6:49526416..49528539-chr6:49538337..49540556,2	MCF-7	breast:
5	chr6:49525058..49527537-chr6:49527884..49529591,2	MCF-7	breast:
6	chr6:49527272..49529386-chr6:49818361..49819929,2	MCF-7	breast:
7	chr6:49499174..49502277-chr6:49525048..49528299,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186399541	chr6:49526548-49526549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557321562	chr6:49526569-49526570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575785412	chr6:49526570-49526571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200335161	chr6:49526610-49526611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2127758	chr6:49526638-49526639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528519135	chr6:49526642-49526643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540663487	chr6:49526656-49526657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565258974	chr6:49526657-49526658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532347821	chr6:49526687-49526688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550840004	chr6:49526710-49526711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140095038	chr6:49526782-49526783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529849677	chr6:49526785-49526786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562115703	chr6:49526812-49526813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369395945	chr6:49526817-49526818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566194249	chr6:49526818-49526819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66650945	chr6:49526927-49526928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73433818	chr6:49526955-49526956	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190961141	chr6:49527082-49527083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12214715	chr6:49527095-49527096	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539004317	chr6:49527134-49527135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141969190	chr6:49527178-49527179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182672861	chr6:49527205-49527206	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543218285	chr6:49527233-49527234	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150665561	chr6:49527239-49527240	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115579301	chr6:49527244-49527245	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540724466	chr6:49527249-49527250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187363592	chr6:49527254-49527255	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140013486	chr6:49527260-49527261	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190745342	chr6:49527289-49527290	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532113326	chr6:49527313-49527314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183262847	chr6:49527452-49527453	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149847084	chr6:49527458-49527459	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187278544	chr6:49527460-49527461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72868379	chr6:49527513-49527514	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192162967	chr6:49527524-49527525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570365760	chr6:49527537-49527538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114772792	chr6:49527546-49527547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Bladder cancer	21909424	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49519400-49526600	Enhancers	Hela-S3	cervix
2	chr6:49519400-49533600	Weak transcription	Pancreas	Pancrea
3	chr6:49520600-49529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:49522800-49534000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:49523600-49530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:49524600-49528000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:49524600-49533600	Weak transcription	NH-A	brain
8	chr6:49524800-49528000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:49524800-49533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:49525200-49531600	Weak transcription	HUVEC	blood vessel
11	chr6:49525400-49526600	Strong transcription	HMEC	breast
12	chr6:49525600-49537600	Weak transcription	Fetal Intestine Small	intestine
13	chr6:49525800-49527200	Weak transcription	A549	lung
14	chr6:49526000-49527200	Weak transcription	NHEK	skin
15	chr6:49526000-49530000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:49526200-49527600	Weak transcription	Stomach Mucosa	stomach
17	chr6:49526600-49526800	Weak transcription	HMEC	breast
18	chr6:49526600-49527000	Weak transcription	Hela-S3	cervix
19	chr6:49526800-49527400	Strong transcription	HMEC	breast
20	chr6:49527000-49527600	Enhancers	Hela-S3	cervix
21	chr6:49527200-49527800	Genic enhancers	A549	lung
22	chr6:49527200-49527800	Strong transcription	NHEK	skin
23	chr6:49527400-49533000	Weak transcription	HMEC	breast

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