Variant report

Variant	nsv965757
Chromosome Location	chr6:114403483-114408101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:114406043-114406118	MCF-7	breast:	n/a	n/a
2	CTCF	chr6:114406039-114406109	MCF-7	breast:	n/a	n/a
3	FOS	chr6:114403809-114404074	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:114403789-114404098	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:114403808-114404094	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:114405538-114405555	Gliobla	brain:	n/a	n/a
7	POLR2A	chr6:114406011-114406135	ProgFib	skin:	n/a	n/a
8	POLR2A	chr6:114405569-114405783	Gliobla	brain:	n/a	n/a
9	POLR2A	chr6:114405789-114405808	Gliobla	brain:	n/a	n/a
10	STAT3	chr6:114403893-114404074	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr6:114403874-114404093	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr6:114403792-114404092	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr6:114403874-114404009	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114405733-114405787	ENSG00000228624

Variant related genes	Relation type
RPSAP43	TF binding region
ENSG00000228624	TF binding region
SAMHD1	miRNA target sites

Extended variants
information (count: 150 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17075863	chr6:114403495-114403496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543376889	chr6:114403496-114403497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376980371	chr6:114403565-114403566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565155948	chr6:114403567-114403568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180999739	chr6:114403573-114403574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149889872	chr6:114403577-114403578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546470704	chr6:114403600-114403601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560438651	chr6:114403660-114403661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527479359	chr6:114403664-114403665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564778874	chr6:114403694-114403695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112917287	chr6:114403704-114403705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550877029	chr6:114403810-114403811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567330793	chr6:114403828-114403829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537957588	chr6:114403837-114403838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549723900	chr6:114403871-114403872	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571138579	chr6:114403894-114403895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538666192	chr6:114403900-114403901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528834742	chr6:114403921-114403922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572698738	chr6:114403998-114403999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184326838	chr6:114403999-114404000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs190789944	chr6:114404071-114404072	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547211999	chr6:114404112-114404113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576098514	chr6:114404141-114404142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543487478	chr6:114404182-114404183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565413418	chr6:114404222-114404223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577160125	chr6:114404243-114404244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117908904	chr6:114404279-114404280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181744322	chr6:114404281-114404282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527595777	chr6:114404304-114404305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549166692	chr6:114404306-114404307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561090529	chr6:114404372-114404373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531568887	chr6:114404428-114404429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185874629	chr6:114404447-114404448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148600438	chr6:114404469-114404470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377652222	chr6:114404545-114404546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538207048	chr6:114404553-114404554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547379361	chr6:114404596-114404597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71553393	chr6:114404601-114404602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565997925	chr6:114404609-114404610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114540538	chr6:114404664-114404665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554868961	chr6:114404683-114404684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147142875	chr6:114404707-114404708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs68103507	chr6:114404709-114404710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188825035	chr6:114404892-114404893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377596287	chr6:114404905-114404906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7758551	chr6:114404908-114404909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117836639	chr6:114404935-114404936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13219320	chr6:114404945-114404946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569505258	chr6:114404956-114404957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7776443	chr6:114404959-114404960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114385600-114415800	Weak transcription	HSMM	muscle
2	chr6:114397600-114405600	Weak transcription	HSMMtube	muscle
3	chr6:114398400-114404400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:114398400-114408800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:114402000-114408400	Weak transcription	Brain Anterior Caudate	brain
6	chr6:114402200-114404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:114402400-114417800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:114404200-114404600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:114404400-114404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:114404400-114404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:114404600-114405000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:114404600-114407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:114404800-114405200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:114405200-114406000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:114405400-114405800	Active TSS	K562	blood
16	chr6:114405400-114406000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:114405400-114406000	Flanking Active TSS	Osteobl	bone
18	chr6:114405600-114405800	Enhancers	HSMMtube	muscle
19	chr6:114405600-114407000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:114405600-114407400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:114405800-114406000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:114405800-114406200	Weak transcription	HSMMtube	muscle
23	chr6:114405800-114406800	Enhancers	NHDF-Ad	bronchial
24	chr6:114406000-114406800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:114406000-114407400	Enhancers	Osteobl	bone
26	chr6:114406000-114407600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:114406200-114406800	Enhancers	HSMMtube	muscle
28	chr6:114406800-114411800	Weak transcription	HSMMtube	muscle
29	chr6:114407000-114411800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:114407200-114409200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:114407400-114408800	Bivalent Enhancer	Osteobl	bone
32	chr6:114407600-114408800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:114407600-114411600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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