Variant report

Variant	nsv970324
Chromosome Location	chr6:15589492-15593264
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	FOS	chr6:15589379-15589524	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:15589318-15589507	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:15589363-15589550	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:15589275-15589588	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr6:15589140-15589665	SK-N-SH	brain:	n/a	chr6:15589255-15589265 chr6:15589256-15589264
6	POLR2A	chr6:15590639-15590736	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:15590107-15590216	K562	blood:	n/a	n/a
8	POLR2A	chr6:15590895-15590938	MCF10A-Er-Src	breast:	n/a	n/a
9	RFX5	chr6:15592057-15592241	K562	blood:	n/a	n/a
10	RUNX3	chr6:15589276-15589751	GM12878	blood:	n/a	n/a
11	RUNX3	chr6:15589417-15589714	GM12878	blood:	n/a	n/a
12	STAT3	chr6:15589598-15589798	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr6:15591770-15591966	MCF10A-Er-Src	breast:	n/a	n/a
14	UBTF	chr6:15589666-15589794	K562	blood:	n/a	n/a
15	USF1	chr6:15592153-15592281	HepG2	liver:	n/a	chr6:15592209-15592220
16	ZNF384	chr6:15593173-15593353	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:15585354..15587366-chr6:15591029..15592770,2	K562	blood:
2	chr6:15589180..15591388-chr6:15596744..15598530,2	MCF-7	breast:
3	chr6:15589654..15592157-chr6:15593605..15596386,2	K562	blood:
4	chr6:15592129..15594762-chr6:15602213..15604420,2	K562	blood:
5	chr6:15592181..15595081-chr6:15597021..15598867,2	MCF-7	breast:

Variant related genes	Relation type
DTNBP1	TF binding region
ENSG00000047579	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369963988	chr6:15589521-15589522	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570218476	chr6:15589612-15589613	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192463048	chr6:15589619-15589620	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552581253	chr6:15589656-15589657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572777237	chr6:15589659-15589660	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535426686	chr6:15589713-15589714	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144691075	chr6:15589729-15589730	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575304389	chr6:15589852-15589853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539318130	chr6:15589879-15589880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183589436	chr6:15589901-15589902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140174535	chr6:15589960-15589961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145691795	chr6:15589964-15589965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35405626	chr6:15589977-15589978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546204834	chr6:15590013-15590014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9296985	chr6:15590015-15590016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528779232	chr6:15590070-15590071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386697430	chr6:15590087-15590088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9296986	chr6:15590088-15590089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567578723	chr6:15590097-15590098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550775767	chr6:15590147-15590148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570194350	chr6:15590176-15590177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562455859	chr6:15590183-15590184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539172789	chr6:15590194-15590195	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546182653	chr6:15590210-15590211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566171484	chr6:15590240-15590241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535442409	chr6:15590263-15590264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188728697	chr6:15590277-15590278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575515840	chr6:15590342-15590343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537609970	chr6:15590373-15590374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73371544	chr6:15590385-15590386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147297910	chr6:15590408-15590409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555362338	chr6:15590421-15590422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574180632	chr6:15590434-15590435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544748796	chr6:15590461-15590462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112835129	chr6:15590518-15590519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377505545	chr6:15590521-15590522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140960716	chr6:15590545-15590546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546366484	chr6:15590551-15590552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181212179	chr6:15590606-15590607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573118400	chr6:15590640-15590641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs11752196	chr6:15590652-15590653	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562218560	chr6:15590679-15590680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11755055	chr6:15590685-15590686	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544376743	chr6:15590700-15590701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142407832	chr6:15590898-15590899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369378713	chr6:15590919-15590920	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs532852656	chr6:15590949-15590950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546247403	chr6:15590991-15590992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374252414	chr6:15591005-15591006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566564292	chr6:15591024-15591025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Schizophrenia	22423091	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15534400-15609800	Weak transcription	Thymus	Thymus
2	chr6:15563400-15604200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:15565400-15593200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:15565800-15595800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:15567200-15593800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:15571200-15593000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:15574000-15596800	Weak transcription	Fetal Intestine Small	intestine
8	chr6:15574800-15592400	Weak transcription	Dnd41	blood
9	chr6:15574800-15603600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:15575400-15592600	Weak transcription	Primary T cells from cord blood	blood
11	chr6:15576000-15596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:15578600-15596200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:15578800-15595800	Weak transcription	Aorta	Aorta
14	chr6:15580800-15592200	Weak transcription	Primary B cells from cord blood	blood
15	chr6:15581400-15595800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:15585400-15609800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:15586200-15604600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:15587000-15602600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:15587000-15616200	Weak transcription	Pancreas	Pancrea
20	chr6:15587200-15593800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:15587400-15592200	Weak transcription	Fetal Heart	heart
22	chr6:15587400-15592800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:15587400-15595800	Weak transcription	Ovary	ovary
24	chr6:15587400-15602400	Weak transcription	K562	blood
25	chr6:15587400-15605200	Weak transcription	NHDF-Ad	bronchial
26	chr6:15588600-15590200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:15588800-15589800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:15588800-15589800	Enhancers	HSMMtube	muscle
29	chr6:15588800-15590000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:15589000-15589800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:15589200-15589600	Enhancers	Right Atrium	heart
32	chr6:15589200-15589800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:15589200-15589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:15589400-15589800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:15589400-15589800	Enhancers	Lung	lung
36	chr6:15589400-15589800	Enhancers	Right Ventricle	heart
37	chr6:15589600-15589800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:15589600-15589800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:15589600-15589800	Enhancers	Left Ventricle	heart
40	chr6:15589600-15589800	Enhancers	Psoas Muscle	Psoas
41	chr6:15589600-15589800	Enhancers	GM12878-XiMat	blood
42	chr6:15589600-15595200	Weak transcription	Right Atrium	heart
43	chr6:15589800-15590400	Weak transcription	Psoas Muscle	Psoas
44	chr6:15589800-15591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:15589800-15593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:15589800-15593800	Weak transcription	HSMMtube	muscle
47	chr6:15589800-15595200	Weak transcription	Lung	lung
48	chr6:15589800-15595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:15589800-15596400	Weak transcription	Left Ventricle	heart
50	chr6:15589800-15596400	Weak transcription	Right Ventricle	heart

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