Variant report

Variant	nsv981312
Chromosome Location	chr6:48437294-48450902
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	chr6:48442637..48444908-chr6:48734005..48735612,2	MCF-7	breast:

Extended variants
information (count: 345 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143636650	chr6:48437295-48437296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192133380	chr6:48437317-48437318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9473373	chr6:48437327-48437328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113240371	chr6:48437433-48437434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547570442	chr6:48437440-48437441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530171964	chr6:48437468-48437469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566179505	chr6:48437472-48437473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183262763	chr6:48437506-48437507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551618136	chr6:48437537-48437538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550407864	chr6:48437566-48437567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185767684	chr6:48437567-48437568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190572351	chr6:48437603-48437604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10948414	chr6:48437611-48437612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183006197	chr6:48437645-48437646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370401956	chr6:48437688-48437689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574470599	chr6:48437704-48437705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534662246	chr6:48437710-48437711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552749498	chr6:48437716-48437717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577330258	chr6:48437749-48437750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545955590	chr6:48437777-48437778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552639229	chr6:48437786-48437787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564364671	chr6:48437808-48437809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543433055	chr6:48437868-48437869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543746325	chr6:48437901-48437902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77702717	chr6:48437902-48437903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1348410	chr6:48437916-48437917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186926853	chr6:48437927-48437928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559849971	chr6:48437968-48437969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533487026	chr6:48437969-48437970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138674456	chr6:48438000-48438001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547758533	chr6:48438001-48438002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537293452	chr6:48438020-48438021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149557391	chr6:48438023-48438024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567556873	chr6:48438029-48438030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534284473	chr6:48438045-48438046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75358593	chr6:48438076-48438077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532272563	chr6:48438095-48438096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71688670	chr6:48438113-48438114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552566976	chr6:48438128-48438129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10456585	chr6:48438171-48438172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538328651	chr6:48438172-48438173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556676110	chr6:48438201-48438202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1348411	chr6:48438228-48438229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535001381	chr6:48438244-48438245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374282837	chr6:48438258-48438259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1348412	chr6:48438259-48438260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1348413	chr6:48438265-48438266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559760715	chr6:48438272-48438273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144253351	chr6:48438286-48438287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192800615	chr6:48438293-48438294	Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48436600-48437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:48437600-48438000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:48438000-48440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:48439000-48439200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:48439200-48443600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:48440200-48441600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:48441800-48442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:48442000-48442400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:48442000-48444200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:48442000-48444200	Enhancers	NHEK	skin
11	chr6:48442400-48442600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:48442400-48442800	Enhancers	Fetal Lung	lung
13	chr6:48442400-48444200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:48442400-48444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:48442400-48444200	Enhancers	HMEC	breast
16	chr6:48442600-48444000	Enhancers	Esophagus	oesophagus
17	chr6:48443600-48443800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:48444600-48445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:48445400-48445600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:48445600-48445800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links