Variant report

Variant	nsv981356
Chromosome Location	chr6:4757259-4772191
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	CEBPB	chr6:4761027-4761425	MCF-7	breast:	n/a	n/a
2	CEBPB	chr6:4761057-4761366	K562	blood:	n/a	n/a
3	CEBPB	chr6:4761073-4761353	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:4761058-4761373	A549	lung:	n/a	n/a
5	CEBPB	chr6:4761074-4761402	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:4769769-4769823	K562	blood:	n/a	n/a
7	CEBPB	chr6:4761057-4761398	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:4761089-4761360	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:4768440-4768590	GM12869	blood:	n/a	n/a
10	CTCF	chr6:4758065-4758068	GM13976	blood:	n/a	n/a
11	CTCF	chr6:4758001-4758062	GM13976	blood:	n/a	n/a
12	FOS	chr6:4757254-4757435	MCF10A-Er-Src	breast:	n/a	chr6:4757276-4757286 chr6:4757276-4757286 chr6:4757275-4757287 chr6:4757277-4757286 chr6:4757276-4757286
13	JUN	chr6:4764331-4764408	K562	blood:	n/a	n/a
14	JUND	chr6:4757127-4757443	HepG2	liver:	n/a	chr6:4757276-4757286 chr6:4757276-4757286 chr6:4757275-4757286 chr6:4757275-4757287 chr6:4757277-4757286 chr6:4757276-4757286
15	KAP1	chr6:4763051-4763385	K562	blood:	n/a	n/a
16	MAFF	chr6:4763072-4763265	K562	blood:	n/a	n/a
17	MAFF	chr6:4768078-4768157	K562	blood:	n/a	n/a
18	MAFF	chr6:4768024-4768269	HepG2	liver:	n/a	n/a
19	MAFF	chr6:4769058-4769429	HepG2	liver:	n/a	n/a
20	MAFF	chr6:4760494-4760747	HepG2	liver:	n/a	chr6:4760616-4760634
21	MAFF	chr6:4769044-4769413	K562	blood:	n/a	n/a
22	MAFK	chr6:4760476-4760786	HepG2	liver:	n/a	chr6:4760617-4760631 chr6:4760619-4760630
23	MAFK	chr6:4771869-4772022	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFK	chr6:4769171-4769380	Hela-S3	cervix:	n/a	chr6:4769251-4769266
25	MAFK	chr6:4760483-4760753	HepG2	liver:	n/a	chr6:4760617-4760631 chr6:4760619-4760630
26	MAFK	chr6:4762973-4763274	HepG2	liver:	n/a	n/a
27	MAFK	chr6:4760523-4760769	IMR90	lung:	n/a	chr6:4760617-4760631 chr6:4760619-4760630
28	MAFK	chr6:4769111-4769385	K562	blood:	n/a	chr6:4769251-4769266
29	MAFK	chr6:4769043-4769427	HepG2	liver:	n/a	chr6:4769251-4769266
30	MAFK	chr6:4763091-4763165	K562	blood:	n/a	n/a
31	MAFK	chr6:4769081-4769411	IMR90	lung:	n/a	chr6:4769251-4769266
32	MAFK	chr6:4769003-4769423	HepG2	liver:	n/a	chr6:4769251-4769266
33	MAFK	chr6:4763052-4763254	HepG2	liver:	n/a	n/a
34	PAX5	chr6:4761577-4761794	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:4763954-4764081	ProgFib	skin:	n/a	n/a
36	POLR2A	chr6:4767863-4768189	K562	blood:	n/a	n/a
37	POLR2A	chr6:4763920-4764098	K562	blood:	n/a	n/a
38	POLR2A	chr6:4759222-4759335	H1-hESC	embryonic stem cell:	n/a	n/a
39	RFX5	chr6:4769170-4769272	HepG2	liver:	n/a	n/a
40	RFX5	chr6:4761163-4761371	K562	blood:	n/a	n/a
41	SETDB1	chr6:4762304-4763128	U2OS	brain:	n/a	n/a
42	STAT3	chr6:4762267-4762290	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr6:4763062-4763262	MCF10A-Er-Src	breast:	n/a	n/a
44	USF1	chr6:4761638-4761720	HepG2	liver:	n/a	n/a
45	ZNF143	chr6:4762668-4762851	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4758249..4760248-chr6:4797102..4799227,2	K562	blood:
2	chr6:4756162..4757939-chr6:4768050..4769568,2	K562	blood:
3	chr6:4755186..4757947-chr6:4774551..4778325,5	K562	blood:
4	chr6:4766091..4770015-chr6:4774591..4777896,5	K562	blood:
5	chr6:4762069..4764795-chr6:4775809..4777716,2	K562	blood:
6	chr6:4757698..4760676-chr6:4762134..4764890,3	K562	blood:
7	chr6:4756162..4757939-chr6:4768050..4769568,2	K562	blood:
8	chr6:4770328..4772807-chr6:4773025..4778379,5	MCF-7	breast:
9	chr6:4757698..4760676-chr6:4762134..4764890,3	K562	blood:
10	chr6:4755437..4757743-chr6:4775444..4778315,2	K562	blood:
11	chr6:4768044..4769868-chr6:4774561..4776902,3	MCF-7	breast:
12	chr6:4758699..4760453-chr6:4775834..4777819,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP40-6	chr6:4762255-4763086	NONHSAT107487
2	lnc-RPP40-6	chr6:4761899-4762110	NONHSAT107487
3	lnc-RPP40-6	chr6:4764381-4764535	NONHSAT107487
4	lnc-RPP40-6	chr6:4761530-4761743	NONHSAT107487
5	lnc-RPP40-6	chr6:4760078-4760321	NONHSAT107487
6	lnc-RPP40-6	chr6:4760899-4761373	NONHSAT107487
7	lnc-RPP40-6	chr6:4760516-4760738	NONHSAT107487

Variant related genes	Relation type
CDYL	TF binding region
ENSG00000153046	chromatin interactions
ENSG00000236336	chromatin interactions

Extended variants
information (count: 546 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77209047	chr6:4757278-4757279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187631070	chr6:4757288-4757289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552652952	chr6:4757296-4757297	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572574506	chr6:4757297-4757298	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115517699	chr6:4757305-4757306	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192692330	chr6:4757309-4757310	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114461917	chr6:4757311-4757312	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182774092	chr6:4757341-4757342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373019848	chr6:4757345-4757346	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147552919	chr6:4757388-4757389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62384841	chr6:4757403-4757404	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72821441	chr6:4757417-4757418	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73358690	chr6:4757463-4757464	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112813266	chr6:4757490-4757491	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73360651	chr6:4757499-4757500	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551559215	chr6:4757598-4757599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571660526	chr6:4757627-4757628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187099630	chr6:4757646-4757647	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191662347	chr6:4757832-4757833	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184615834	chr6:4757900-4757901	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11961805	chr6:4757930-4757931	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552714666	chr6:4757932-4757933	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574460982	chr6:4758812-4758813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142828905	chr6:4758821-4758822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs180816043	chr6:4758843-4758844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185619168	chr6:4758845-4758846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115027361	chr6:4758903-4758904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565399513	chr6:4758956-4758957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146098650	chr6:4758958-4758959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555440191	chr6:4758995-4758996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560994949	chr6:4759033-4759034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530028497	chr6:4759034-4759035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112321445	chr6:4759038-4759039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572249393	chr6:4759044-4759045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73360653	chr6:4759051-4759052	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78339423	chr6:4759074-4759075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188616116	chr6:4759075-4759076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201560379	chr6:4759109-4759110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181095094	chr6:4759125-4759126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569021243	chr6:4759146-4759147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141491308	chr6:4759161-4759162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377350819	chr6:4759164-4759165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185879671	chr6:4759177-4759178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs57768379	chr6:4759234-4759235	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs60530811	chr6:4759295-4759296	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533726407	chr6:4759303-4759304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553705076	chr6:4759327-4759328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372304072	chr6:4759359-4759360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573428868	chr6:4759364-4759365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11242981	chr6:4759366-4759367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4759000-4760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:4760200-4761200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:4760200-4761400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:4760400-4760800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:4760400-4761000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:4760400-4761000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:4760600-4761000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:4760800-4761000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:4761000-4773200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:4762600-4763200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr6:4769000-4769200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:4769800-4775000	Weak transcription	Aorta	Aorta
13	chr6:4771600-4772200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:4771600-4772600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:4771600-4772800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:4771600-4773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:4771800-4772000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:4771800-4772600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:4771800-4772600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:4771800-4772600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:4771800-4772600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:4772000-4772600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:4772000-4772800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:4772000-4773000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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