Variant report

Variant	nsv965662
Chromosome Location	chr6:133058111-133063853
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	MAX	chr6:133063727-133063944	NB4	blood:	n/a	n/a
2	MYC	chr6:133063694-133063856	NB4	blood:	n/a	n/a
3	MYC	chr6:133058391-133058446	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:133057462-133058214	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:133054417-133058306	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:133062914-133062991	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133054047..133059196-chr6:133082600..133087082,5	MCF-7	breast:
2	chr6:133053489..133056295-chr6:133060102..133062322,2	K562	blood:
3	chr6:133049010..133050682-chr6:133062488..133064307,2	K562	blood:
4	chr6:132968732..132971357-chr6:133057233..133059369,2	MCF-7	breast:

Variant related genes	Relation type
VNN3	TF binding region
ENSG00000112303	chromatin interactions
ENSG00000271488	chromatin interactions
ENSG00000093134	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538691036	chr6:133058180-133058181	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs185253361	chr6:133058219-133058220	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs190010913	chr6:133058242-133058243	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377060296	chr6:133058261-133058262	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115339748	chr6:133058283-133058284	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535191089	chr6:133058287-133058288	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547746950	chr6:133058290-133058291	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555141522	chr6:133058293-133058294	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145735127	chr6:133058355-133058356	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540825381	chr6:133058386-133058387	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140490238	chr6:133058390-133058391	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116832912	chr6:133058391-133058392	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs552388480	chr6:133058446-133058447	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563690610	chr6:133058495-133058496	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370133566	chr6:133058497-133058498	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs72994242	chr6:133058512-133058513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145729755	chr6:133058523-133058524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559548491	chr6:133058529-133058530	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528724133	chr6:133058552-133058553	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72994245	chr6:133058554-133058555	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571937619	chr6:133058601-133058602	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148208235	chr6:133058604-133058605	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370973369	chr6:133058607-133058608	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183865817	chr6:133058622-133058623	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550826765	chr6:133058693-133058694	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569332109	chr6:133058702-133058703	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187214646	chr6:133058766-133058767	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368486850	chr6:133058797-133058798	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146566305	chr6:133058831-133058832	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572034252	chr6:133058868-133058869	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536845694	chr6:133058881-133058882	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534863564	chr6:133058913-133058914	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34558484	chr6:133058917-133058918	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540643458	chr6:133058918-133058919	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs397730028	chr6:133058933-133058934	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557643710	chr6:133059040-133059041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577880154	chr6:133059041-133059042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543762901	chr6:133059049-133059050	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191688686	chr6:133059050-133059051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568990107	chr6:133059061-133059062	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543033714	chr6:133059091-133059092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183524303	chr6:133059093-133059094	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528557705	chr6:133059115-133059116	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115404903	chr6:133059135-133059136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565351634	chr6:133059167-133059168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577055225	chr6:133059168-133059169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs187464835	chr6:133059195-133059196	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540699899	chr6:133059202-133059203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559324983	chr6:133059239-133059240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375853053	chr6:133059257-133059258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133044400-133066200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:133052400-133058800	Enhancers	Stomach Mucosa	stomach
3	chr6:133054400-133058400	Enhancers	HepG2	liver
4	chr6:133055000-133058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:133055200-133064800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:133056000-133058400	Enhancers	Liver	Liver
7	chr6:133056000-133059000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:133056800-133058200	Weak transcription	Pancreas	Pancrea
9	chr6:133056800-133058600	Enhancers	Primary B cells from cord blood	blood
10	chr6:133056800-133067400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:133057200-133058400	Enhancers	Hela-S3	cervix
12	chr6:133057400-133058400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:133057600-133069200	Weak transcription	GM12878-XiMat	blood
14	chr6:133057800-133058400	Enhancers	Small Intestine	intestine
15	chr6:133058000-133058400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:133058000-133058600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:133058000-133058800	Enhancers	Placenta	Placenta
18	chr6:133058200-133058600	Enhancers	Pancreas	Pancrea
19	chr6:133058400-133061800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:133058400-133064800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:133058400-133070400	Weak transcription	Liver	Liver
22	chr6:133058600-133058800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:133058600-133062600	Weak transcription	Primary B cells from cord blood	blood
24	chr6:133058800-133059800	Weak transcription	Stomach Mucosa	stomach
25	chr6:133058800-133061000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:133058800-133067600	Weak transcription	Placenta	Placenta
27	chr6:133059000-133060800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:133059800-133060400	Enhancers	Stomach Mucosa	stomach
29	chr6:133060400-133062200	Weak transcription	Stomach Mucosa	stomach
30	chr6:133060800-133061200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:133061000-133061600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:133061200-133062000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:133061200-133062600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
35	chr6:133061600-133062000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:133061600-133062600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:133061600-133072200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:133061800-133062200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr6:133062000-133063000	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:133062000-133063000	Genic enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:133062000-133063200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr6:133062200-133062800	Enhancers	Stomach Mucosa	stomach
43	chr6:133062200-133063000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
44	chr6:133062600-133063000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr6:133062600-133063200	Genic enhancers	Primary B cells from cord blood	blood
46	chr6:133062600-133070400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:133062800-133063200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:133062800-133065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:133063000-133063200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr6:133063000-133063600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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