Variant report

Variant	nsv969311
Chromosome Location	chr6:74166570-74168180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr6:74166620-74166771	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74160381..74163624-chr6:74164100..74167084,3	MCF-7	breast:
2	chr6:74164240..74168881-chr6:74169286..74175928,7	K562	blood:
3	6:74000304-74012200..6:74160392-74184826	K562	blood:
4	chr6:74164299..74168404-chr6:74171305..74174933,6	K562	blood:
5	chr6:74164533..74167289-chr6:74290489..74292657,2	MCF-7	breast:
6	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
7	chr6:74160723..74162735-chr6:74167312..74170112,3	MCF-7	breast:
8	chr6:74163964..74167099-chr6:74229321..74231393,3	MCF-7	breast:
9	chr6:74160266..74162400-chr6:74168144..74170006,2	K562	blood:
10	chr6:74164443..74166634-chr6:74168555..74172603,3	MCF-7	breast:

No data

Variant related genes	Relation type
MB21D1	TF binding region
MTO1	TF binding region
ENSG00000164430	chromatin interactions
ENSG00000135297	chromatin interactions
ENSG00000207023	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000234882	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571683233	chr6:74166597-74166598	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs370478819	chr6:74166608-74166609	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs552840003	chr6:74166689-74166690	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs564687096	chr6:74166744-74166745	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs557518459	chr6:74166812-74166813	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs575706343	chr6:74166831-74166832	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs138950511	chr6:74166836-74166837	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555589179	chr6:74166883-74166884	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs573874194	chr6:74166953-74166954	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs532017308	chr6:74166969-74166970	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs541186580	chr6:74166970-74166971	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs192902842	chr6:74167005-74167006	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs550455619	chr6:74167009-74167010	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs567925078	chr6:74167010-74167011	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577441178	chr6:74167011-74167012	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs572783305	chr6:74167020-74167021	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs148969468	chr6:74167035-74167036	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs530383580	chr6:74167070-74167071	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs9446906	chr6:74167143-74167144	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184502911	chr6:74167180-74167181	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs528800735	chr6:74167192-74167193	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs547308158	chr6:74167200-74167201	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs571849154	chr6:74167208-74167209	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532800978	chr6:74167230-74167231	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551086924	chr6:74167259-74167260	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145795139	chr6:74167268-74167269	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs74571606	chr6:74167272-74167273	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138448246	chr6:74167283-74167284	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs554679855	chr6:74167330-74167331	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs566892510	chr6:74167335-74167336	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs187793663	chr6:74167373-74167374	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs9341423	chr6:74167406-74167407	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs557500410	chr6:74167415-74167416	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs192605680	chr6:74167488-74167489	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs563705869	chr6:74167506-74167507	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs556589493	chr6:74167522-74167523	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73754630	chr6:74167526-74167527	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542576386	chr6:74167575-74167576	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs36067029	chr6:74167604-74167605	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115933764	chr6:74167616-74167617	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs528119500	chr6:74167627-74167628	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs146219591	chr6:74167675-74167676	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs536907512	chr6:74167676-74167677	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs373752792	chr6:74167685-74167686	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565618258	chr6:74167694-74167695	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs34118684	chr6:74167701-74167702	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs34822971	chr6:74167709-74167710	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs28468626	chr6:74167748-74167749	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs184788978	chr6:74167756-74167757	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs551199980	chr6:74167766-74167767	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74162200-74170800	Weak transcription	Liver	Liver
2	chr6:74162200-74170800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74162200-74170800	Weak transcription	Lung	lung
4	chr6:74162400-74169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:74162400-74170800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:74162400-74170800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:74162400-74170800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:74162600-74169200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr6:74162600-74169200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:74162600-74170800	Weak transcription	Osteobl	bone
11	chr6:74162800-74169800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:74163200-74169400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:74164400-74170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:74164800-74168000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:74164800-74170800	Weak transcription	HMEC	breast
16	chr6:74164800-74171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:74165400-74170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:74165600-74166600	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:74165600-74166600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:74165600-74166800	Enhancers	HepG2	liver
21	chr6:74166000-74169000	Weak transcription	GM12878-XiMat	blood
22	chr6:74166200-74166600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:74166200-74168600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:74166200-74168800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:74166200-74169200	Weak transcription	Primary B cells from cord blood	blood
26	chr6:74166200-74169200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:74166200-74169800	Weak transcription	K562	blood
28	chr6:74166200-74170600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:74166400-74167000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:74166400-74167800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:74166400-74169200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:74166400-74170600	Weak transcription	Hela-S3	cervix
33	chr6:74166400-74170800	Weak transcription	NHEK	skin
34	chr6:74166600-74166800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:74166600-74169200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:74166600-74170200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:74166800-74170000	Weak transcription	HepG2	liver
38	chr6:74166800-74170400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:74167000-74167600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:74167600-74168200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:74167800-74170600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:74168000-74170600	Enhancers	Primary T cells fromperipheralblood	blood

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