Variant report

Variant	nsv885910
Chromosome Location	chr6:55628283-55684300
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	chr6:55668603..55669259-chr8:114927462..114928176,2	MCF-7	breast:
2	chr6:55623116..55625818-chr6:55638380..55641256,2	MCF-7	breast:

Extended variants
information (count: 2001 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2001 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs228139	chr6:55628283-55628284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569444295	chr6:55628292-55628293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532070494	chr6:55628339-55628340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs228140	chr6:55628344-55628345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs568663775	chr6:55628345-55628346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534411866	chr6:55628409-55628410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554270819	chr6:55628435-55628436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561024589	chr6:55628450-55628451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139289865	chr6:55628518-55628519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183856555	chr6:55628630-55628631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142364904	chr6:55628638-55628639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115013535	chr6:55628681-55628682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571875194	chr6:55628690-55628691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368512976	chr6:55628750-55628751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77358222	chr6:55628751-55628752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67001898	chr6:55628775-55628776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369745810	chr6:55628907-55628908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151279803	chr6:55628943-55628944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs228141	chr6:55628950-55628951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs368044811	chr6:55628962-55628963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116802347	chr6:55629002-55629003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532757130	chr6:55629006-55629007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552262457	chr6:55629018-55629019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562380043	chr6:55629046-55629047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527842480	chr6:55629049-55629050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60552676	chr6:55629084-55629085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189018070	chr6:55629094-55629095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140480868	chr6:55629097-55629098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549885201	chr6:55629101-55629102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7745479	chr6:55629111-55629112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572016393	chr6:55629135-55629136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535495997	chr6:55629138-55629139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534366596	chr6:55629139-55629140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568979571	chr6:55629142-55629143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572010833	chr6:55629143-55629144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111635169	chr6:55629154-55629155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113295422	chr6:55629162-55629163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112082770	chr6:55629170-55629171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113415694	chr6:55629176-55629177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576352217	chr6:55629178-55629179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563258108	chr6:55629213-55629214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573542861	chr6:55629227-55629228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369622264	chr6:55629228-55629229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562368058	chr6:55629234-55629235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528032782	chr6:55629242-55629243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371882762	chr6:55629260-55629261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564817101	chr6:55629263-55629264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547995929	chr6:55629264-55629265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564697497	chr6:55629267-55629268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533384153	chr6:55629280-55629281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
2	chr6:55623200-55631400	Weak transcription	Fetal Heart	heart
3	chr6:55624600-55637200	Weak transcription	Hela-S3	cervix
4	chr6:55625400-55646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:55626600-55634800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:55626800-55632200	Weak transcription	Fetal Lung	lung
7	chr6:55628200-55629000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:55629000-55637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:55630400-55630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:55631400-55631800	Enhancers	Fetal Heart	heart
11	chr6:55631800-55633200	Weak transcription	Fetal Heart	heart
12	chr6:55632200-55636600	Strong transcription	Fetal Lung	lung
13	chr6:55633200-55633400	Enhancers	Fetal Heart	heart
14	chr6:55633400-55633600	Genic enhancers	Fetal Heart	heart
15	chr6:55633600-55638200	Weak transcription	Fetal Heart	heart
16	chr6:55634800-55639000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:55636600-55638600	Weak transcription	Fetal Lung	lung
18	chr6:55637200-55639000	Enhancers	Hela-S3	cervix
19	chr6:55637200-55639800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:55638200-55639000	Genic enhancers	Fetal Heart	heart
21	chr6:55638600-55639000	Genic enhancers	Fetal Lung	lung
22	chr6:55638800-55640000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:55638800-55640000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:55638800-55640000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:55639000-55639400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:55639000-55639600	Weak transcription	Fetal Heart	heart
27	chr6:55639000-55639600	Weak transcription	Hela-S3	cervix
28	chr6:55639000-55640000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:55639000-55640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:55639000-55641400	Enhancers	Fetal Lung	lung
31	chr6:55639000-55646800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:55639200-55640000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:55639400-55639800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:55639400-55640000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:55639400-55640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:55639400-55640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:55639600-55640000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr6:55639600-55640000	Enhancers	Hela-S3	cervix
39	chr6:55639600-55641000	Enhancers	Fetal Heart	heart
40	chr6:55640000-55647200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:55640400-55641200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:55640600-55641200	Active TSS	Aorta	Aorta
43	chr6:55641000-55653200	Weak transcription	Fetal Heart	heart
44	chr6:55641400-55642600	Weak transcription	Fetal Lung	lung
45	chr6:55641800-55644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:55642000-55643200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:55642200-55642800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:55642200-55642800	Enhancers	Osteobl	bone
49	chr6:55642600-55643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:55642600-55643000	Enhancers	Fetal Lung	lung

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