Variant report

Variant	nsv5353
Chromosome Location	chr6:76205962-76218316
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	ATF2	chr6:76205848-76206431	GM12878	blood:	n/a	n/a
2	ATF2	chr6:76205641-76206490	GM12878	blood:	n/a	n/a
3	ATF3	chr6:76206011-76206395	K562	blood:	n/a	n/a
4	BATF	chr6:76206003-76206432	GM12878	blood:	n/a	n/a
5	BATF	chr6:76205872-76206476	GM12878	blood:	n/a	n/a
6	BCL11A	chr6:76205939-76206474	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
7	BCL11A	chr6:76206062-76206354	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
8	BCL3	chr6:76206001-76206418	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
9	BCL3	chr6:76205722-76206420	A549	lung:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
10	BCLAF1	chr6:76205840-76206435	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
11	BCLAF1	chr6:76205814-76206362	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
12	BHLHE40	chr6:76205834-76206532	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:76214535-76214860	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr6:76209240-76209840	A549	lung:	n/a	chr6:76209587-76209598
15	CEBPB	chr6:76209366-76209822	A549	lung:	n/a	chr6:76209587-76209598
16	CEBPB	chr6:76205819-76206472	GM12878	blood:	n/a	n/a
17	CEBPB	chr6:76209444-76209761	K562	blood:	n/a	chr6:76209587-76209598
18	CEBPB	chr6:76206145-76206286	K562	blood:	n/a	n/a
19	CEBPB	chr6:76205937-76206293	A549	lung:	n/a	n/a
20	CEBPB	chr6:76214565-76214804	K562	blood:	n/a	n/a
21	CEBPB	chr6:76214555-76214810	A549	lung:	n/a	n/a
22	CEBPB	chr6:76205782-76206419	A549	lung:	n/a	n/a
23	CEBPB	chr6:76209392-76209787	A549	lung:	n/a	chr6:76209587-76209598
24	CEBPB	chr6:76209469-76209717	IMR90	lung:	n/a	chr6:76209587-76209598
25	CEBPB	chr6:76209420-76209774	HepG2	liver:	n/a	chr6:76209587-76209598
26	CEBPB	chr6:76209430-76209742	Hela-S3	cervix:	n/a	chr6:76209587-76209598
27	CEBPB	chr6:76214435-76214829	MCF-7	breast:	n/a	n/a
28	CHD1	chr6:76205615-76206303	GM12878	blood:	n/a	n/a
29	CHD2	chr6:76205934-76206462	GM12878	blood:	n/a	n/a
30	CTCF	chr6:76214680-76214830	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr6:76214640-76214790	HMEC	breast:	n/a	n/a
32	CTCF	chr6:76214663-76214803	GM19239	blood:	n/a	n/a
33	CTCF	chr6:76217908-76217960	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr6:76214620-76214890	A549	lung:	n/a	n/a
35	CTCF	chr6:76214660-76214810	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr6:76214713-76214795	GM10248	blood:	n/a	n/a
37	CTCF	chr6:76214660-76214810	AG04449	skin:	n/a	n/a
38	CTCF	chr6:76214660-76214810	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr6:76214640-76214790	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr6:76214640-76214790	HCFaa	heart:	n/a	n/a
41	CTCF	chr6:76214695-76214788	LNCaP	prostate:	n/a	n/a
42	CTCF	chr6:76214680-76214830	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr6:76214660-76214810	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr6:76214660-76214810	AG09309	skin:	n/a	n/a
45	CTCF	chr6:76214656-76214842	K562	blood:	n/a	n/a
46	CTCF	chr6:76214700-76214850	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr6:76214680-76214830	GM12874	blood:	n/a	n/a
48	CTCF	chr6:76214586-76214908	IMR90	lung:	n/a	n/a
49	CTCF	chr6:76214680-76214830	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr6:76214720-76214870	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:76077523..76078478-chr6:76214305..76215541,10	MCF-7	breast:
2	chr6:76195765..76197358-chr6:76204255..76207065,2	K562	blood:
3	chr6:76203068..76205188-chr6:76206282..76208082,2	MCF-7	breast:
4	chr6:76077595..76078428-chr6:76214125..76215194,3	MCF-7	breast:
5	chr6:76209916..76212546-chr6:76311057..76312919,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SENP6-7	chr6:76209421-76209852	NONHSAT113619

Variant related genes	Relation type
FILIP1	TF binding region
RPL26P20	TF binding region
ENSG00000118407	chromatin interactions
ENSG00000112701	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141889234	chr6:76205968-76205969	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs372458775	chr6:76205969-76205970	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs398110302	chr6:76205980-76205981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs117218761	chr6:76206049-76206050	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs541590686	chr6:76206192-76206193	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs36126706	chr6:76206244-76206245	Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs554666381	chr6:76206255-76206256	Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs573284033	chr6:76206264-76206265	Weak transcription Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs540705283	chr6:76206295-76206296	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565174220	chr6:76206296-76206297	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576971942	chr6:76206310-76206311	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs115054041	chr6:76206342-76206343	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563132205	chr6:76206377-76206378	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs530331676	chr6:76206389-76206390	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs548829985	chr6:76206411-76206412	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs151170728	chr6:76206413-76206414	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538418746	chr6:76206456-76206457	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527438709	chr6:76206465-76206466	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs114453642	chr6:76206523-76206524	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570357495	chr6:76206579-76206580	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116960288	chr6:76206612-76206613	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184920808	chr6:76206712-76206713	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567986828	chr6:76206722-76206723	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375596364	chr6:76206725-76206726	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189851313	chr6:76206744-76206745	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553583342	chr6:76206747-76206748	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530400419	chr6:76206763-76206764	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs13196870	chr6:76206765-76206766	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193175294	chr6:76206787-76206788	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs578052118	chr6:76206820-76206821	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558489487	chr6:76206825-76206826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534080097	chr6:76206837-76206838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558960097	chr6:76206874-76206875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13214357	chr6:76207005-76207006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13214359	chr6:76207007-76207008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184430552	chr6:76207023-76207024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73463793	chr6:76207039-76207040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560700194	chr6:76207046-76207047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527888779	chr6:76207065-76207066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113710581	chr6:76207123-76207124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9350588	chr6:76207124-76207125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539135712	chr6:76207144-76207145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563195395	chr6:76207151-76207152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140053760	chr6:76207161-76207162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114198780	chr6:76207168-76207169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150302006	chr6:76207172-76207173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527842017	chr6:76207213-76207214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146510077	chr6:76207218-76207219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564174456	chr6:76207293-76207294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531229394	chr6:76207324-76207325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76203200-76214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:76203600-76206200	Weak transcription	Pancreas	Pancrea
3	chr6:76203800-76214400	Weak transcription	Left Ventricle	heart
4	chr6:76203800-76215000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:76204000-76206000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:76204000-76206800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:76204000-76209400	Weak transcription	Psoas Muscle	Psoas
8	chr6:76204200-76206000	Weak transcription	Right Atrium	heart
9	chr6:76204200-76206200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:76204200-76206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:76204400-76206200	Enhancers	Fetal Heart	heart
12	chr6:76204400-76206200	Flanking Active TSS	A549	lung
13	chr6:76204400-76206600	Enhancers	Adipose Nuclei	Adipose
14	chr6:76204600-76206200	Enhancers	Fetal Muscle Leg	muscle
15	chr6:76204600-76206400	Enhancers	Colon Smooth Muscle	Colon
16	chr6:76204800-76206000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:76204800-76206200	Enhancers	Fetal Stomach	stomach
18	chr6:76204800-76206400	Enhancers	Fetal Lung	lung
19	chr6:76205000-76213600	Enhancers	HUVEC	blood vessel
20	chr6:76205400-76206200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:76205400-76206400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:76205400-76206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:76205400-76206600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:76205400-76208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:76205400-76213200	Weak transcription	NHLF	lung
26	chr6:76205600-76206000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:76205600-76206000	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:76205600-76206200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:76205600-76206200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:76205600-76206600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:76205800-76206200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:76205800-76206200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr6:76205800-76206200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:76205800-76206200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:76205800-76206200	Enhancers	K562	blood
36	chr6:76205800-76206200	Active TSS	NHDF-Ad	bronchial
37	chr6:76205800-76206200	Enhancers	Osteobl	bone
38	chr6:76206000-76206200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:76206000-76206200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:76206000-76206200	Active TSS	GM12878-XiMat	blood
41	chr6:76206000-76206400	Active TSS	Right Atrium	heart
42	chr6:76206000-76208600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:76206200-76206400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:76206200-76206400	Enhancers	Pancreas	Pancrea
45	chr6:76206200-76206600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:76206200-76206600	Enhancers	Fetal Muscle Trunk	muscle
47	chr6:76206200-76206600	Active TSS	A549	lung
48	chr6:76206200-76208600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:76206200-76208600	Weak transcription	Fetal Heart	heart
50	chr6:76206200-76211600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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