Variant report

Variant	nsv819758
Chromosome Location	chr6:150210602-150210846
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	BRCA1	chr6:150209949-150210829	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:150210475-150210841	A549	lung:	n/a	n/a
3	CEBPB	chr6:150209208-150210929	Hela-S3	cervix:	n/a	chr6:150209470-150209481
4	CHD2	chr6:150209928-150210882	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr6:150210445-150210743	A549	lung:	n/a	n/a
6	CREB1	chr6:150210538-150210756	A549	lung:	n/a	n/a
7	ELK1	chr6:150210296-150210901	Hela-S3	cervix:	n/a	n/a
8	EP300	chr6:150209881-150210907	Hela-S3	cervix:	n/a	chr6:150210177-150210191 chr6:150210207-150210214
9	EP300	chr6:150210297-150210897	A549	lung:	n/a	n/a
10	FOS	chr6:150210466-150210809	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:150210531-150210810	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:150210504-150210808	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:150210454-150210765	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA2	chr6:150210469-150210980	A549	lung:	n/a	n/a
15	GTF2F1	chr6:150209210-150210886	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr6:150210022-150210862	Hela-S3	cervix:	n/a	n/a
17	MAX	chr6:150209242-150210893	Hela-S3	cervix:	n/a	n/a
18	MAZ	chr6:150209939-150210884	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr6:150209237-150211154	Hela-S3	cervix:	n/a	n/a
20	MYC	chr6:150210456-150210800	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr6:150210521-150210792	MCF10A-Er-Src	breast:	n/a	n/a
22	NFYA	chr6:150210261-150211004	Hela-S3	cervix:	n/a	n/a
23	NFYB	chr6:150210431-150210819	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:150210374-150210854	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:150208350-150212272	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:150208398-150212270	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:150210381-150210871	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:150208138-150210950	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:150209835-150211059	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:150209339-150210780	MCF10A-Er-Src	breast:	n/a	n/a
31	RAD21	chr6:150210480-150210873	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr6:150209922-150211116	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr6:150209898-150210832	Hela-S3	cervix:	n/a	n/a
34	SMARCC1	chr6:150208250-150211123	Hela-S3	cervix:	n/a	chr6:150208765-150208774
35	SMC3	chr6:150209264-150210884	Hela-S3	cervix:	n/a	n/a
36	SP1	chr6:150210279-150210893	A549	lung:	n/a	n/a
37	SP1	chr6:150210443-150210924	A549	lung:	n/a	n/a
38	STAT3	chr6:150209905-150210827	MCF10A-Er-Src	breast:	n/a	chr6:150210314-150210326
39	STAT3	chr6:150210448-150210825	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr6:150210475-150210784	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr6:150210518-150210780	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr6:150209916-150210828	Hela-S3	cervix:	n/a	chr6:150210314-150210326
43	TAF1	chr6:150210484-150210821	Hela-S3	cervix:	n/a	n/a
44	TBP	chr6:150209194-150210904	Hela-S3	cervix:	n/a	n/a
45	TCF12	chr6:150210290-150210927	A549	lung:	n/a	n/a
46	TCF7L2	chr6:150208360-150211113	Hela-S3	cervix:	n/a	n/a
47	TFAP2C	chr6:150209215-150210815	Hela-S3	cervix:	n/a	n/a
48	USF2	chr6:150209204-150210912	Hela-S3	cervix:	n/a	chr6:150209928-150209939
49	ZKSCAN1	chr6:150210050-150210871	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150200712..150203416-chr6:150207860..150210756,3	MCF-7	breast:
2	chr6:150208190..150211087-chr6:150219720..150221224,2	MCF-7	breast:
3	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
4	chr6:150182396..150187721-chr6:150207302..150210632,6	MCF-7	breast:

Variant related genes	Relation type
RAET1E-AS1	TF binding region
ENSG00000268592	chromatin interactions
ENSG00000217733	chromatin interactions
ENSG00000120256	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143655455	chr6:150210652-150210653	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs200404534	chr6:150210662-150210663	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs558969667	chr6:150210665-150210666	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs572045980	chr6:150210680-150210681	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs9371533	chr6:150210681-150210682	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs9383921	chr6:150210685-150210686	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs368716381	chr6:150210691-150210692	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs574439392	chr6:150210697-150210698	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs574591984	chr6:150210699-150210700	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199589821	chr6:150210706-150210707	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201885603	chr6:150210711-150210712	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs138789042	chr6:150210712-150210713	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs199926643	chr6:150210718-150210719	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs6925151	chr6:150210723-150210724	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs138165204	chr6:150210724-150210725	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376621083	chr6:150210736-150210737	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs559385866	chr6:150210765-150210766	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370040821	chr6:150210781-150210782	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563202585	chr6:150210789-150210790	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6933882	chr6:150210802-150210803	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs376238589	chr6:150210807-150210808	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150205600-150216000	Weak transcription	Right Atrium	heart
2	chr6:150205800-150216000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:150206000-150216000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:150206600-150211600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150208000-150210800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:150208000-150211800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:150208400-150211400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:150208400-150211600	Weak transcription	Placenta	Placenta
9	chr6:150208400-150212600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:150208400-150212600	Flanking Active TSS	Hela-S3	cervix
11	chr6:150208600-150211400	Enhancers	HSMMtube	muscle
12	chr6:150209200-150212200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:150209200-150212800	Enhancers	A549	lung
14	chr6:150209400-150211000	Enhancers	Psoas Muscle	Psoas
15	chr6:150209600-150215800	Weak transcription	Adipose Nuclei	Adipose
16	chr6:150209600-150216000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:150209600-150222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:150210000-150211600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:150210200-150211400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:150210200-150211800	Weak transcription	Esophagus	oesophagus
21	chr6:150210400-150210800	Genic enhancers	HMEC	breast
22	chr6:150210400-150211400	Weak transcription	HSMM	muscle
23	chr6:150210400-150211400	Genic enhancers	NHEK	skin
24	chr6:150210400-150211600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:150210400-150211600	Weak transcription	Osteobl	bone
26	chr6:150210400-150211800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:150210600-150211000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:150210600-150211600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:150210600-150211600	Weak transcription	NHDF-Ad	bronchial
30	chr6:150210600-150212800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:150210800-150211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:150210800-150211400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links