Variant report

Variant	nsv978368
Chromosome Location	chr17:15536487-15550772
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	BATF	chr17:15549330-15549670	GM12878	blood:	n/a	n/a
2	BATF	chr17:15549291-15550002	GM12878	blood:	n/a	n/a
3	BCL11A	chr17:15548890-15549084	GM12878	blood:	n/a	chr17:15549009-15549018
4	BCL11A	chr17:15549404-15549593	GM12878	blood:	n/a	n/a
5	BCL3	chr17:15548736-15549375	A549	lung:	n/a	chr17:15549009-15549018
6	CEBPB	chr17:15549315-15549581	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr17:15550051-15550411	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr17:15548408-15548548	A549	lung:	n/a	n/a
9	CEBPB	chr17:15550054-15550409	IMR90	lung:	n/a	n/a
10	CEBPB	chr17:15550058-15550256	HepG2	liver:	n/a	n/a
11	CEBPB	chr17:15550054-15550413	A549	lung:	n/a	n/a
12	CEBPD	chr17:15546414-15546789	K562	blood:	n/a	n/a
13	CREB1	chr17:15548870-15549251	A549	lung:	n/a	n/a
14	CTCF	chr17:15543504-15543644	GM13976	blood:	n/a	n/a
15	EBF1	chr17:15548847-15549229	GM12878	blood:	n/a	chr17:15549020-15549031
16	EBF1	chr17:15548703-15549235	GM12878	blood:	n/a	chr17:15549020-15549031
17	EBF1	chr17:15549509-15550100	GM12878	blood:	n/a	n/a
18	EBF1	chr17:15548775-15549210	GM12878	blood:	n/a	chr17:15549020-15549031
19	EP300	chr17:15548656-15549594	A549	lung:	n/a	chr17:15549090-15549100
20	EP300	chr17:15549349-15549576	Hela-S3	cervix:	n/a	n/a
21	EP300	chr17:15548934-15549191	H1-hESC	embryonic stem cell:	n/a	chr17:15549090-15549100
22	EP300	chr17:15548300-15549580	A549	lung:	n/a	chr17:15549090-15549100
23	ESR1	chr17:15548871-15549111	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr17:15548672-15549192	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr17:15548775-15549191	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr17:15548786-15549124	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr17:15548678-15549257	ECC-1	luminal epithelium:	n/a	n/a
28	ESR1	chr17:15548686-15549335	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr17:15549359-15549595	MCF10A-Er-Src	breast:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
30	FOS	chr17:15548952-15549082	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr17:15549358-15549658	MCF10A-Er-Src	breast:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
32	FOS	chr17:15549379-15549583	MCF10A-Er-Src	breast:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
33	FOS	chr17:15549351-15549597	MCF10A-Er-Src	breast:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
34	FOSL2	chr17:15549324-15549626	A549	lung:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
35	FOSL2	chr17:15548657-15549299	A549	lung:	n/a	n/a
36	FOXA1	chr17:15548337-15548709	HepG2	liver:	n/a	n/a
37	FOXA2	chr17:15545910-15546583	A549	lung:	n/a	n/a
38	FOXA2	chr17:15548252-15549601	A549	lung:	n/a	chr17:15549494-15549506
39	FOXA2	chr17:15547941-15549734	A549	lung:	n/a	chr17:15549494-15549506
40	FOXP2	chr17:15546161-15546470	SK-N-MC	brain:	n/a	n/a
41	GATA2	chr17:15546383-15546902	K562	blood:	n/a	n/a
42	GTF2F1	chr17:15549309-15549318	Hela-S3	cervix:	n/a	n/a
43	IRF4	chr17:15548618-15548941	GM12878	blood:	n/a	n/a
44	IRF4	chr17:15549232-15549776	GM12878	blood:	n/a	n/a
45	IRF4	chr17:15549338-15549767	GM12878	blood:	n/a	n/a
46	JUND	chr17:15546008-15546572	A549	lung:	n/a	chr17:15546323-15546334 chr17:15546324-15546332 chr17:15546320-15546331 chr17:15546322-15546334 chr17:15546322-15546329
47	JUND	chr17:15548965-15549530	H1-hESC	embryonic stem cell:	n/a	chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549520-15549530 chr17:15549521-15549529
48	JUND	chr17:15546040-15546614	A549	lung:	n/a	chr17:15546323-15546334 chr17:15546324-15546332 chr17:15546320-15546331 chr17:15546322-15546334 chr17:15546322-15546329
49	JUND	chr17:15548833-15549358	A549	lung:	n/a	n/a
50	MAFK	chr17:15546273-15546452	IMR90	lung:	n/a	chr17:15546325-15546334

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15541952..15544765-chr17:15553019..15555949,2	MCF-7	breast:
2	chr17:15549060..15550660-chr17:18619947..18621697,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-385D13.1.1-1	chr17:15546048-15546130	NONHSAT145838

Variant related genes	Relation type
TRIM16	TF binding region
ENSG00000266261	TF binding region
ENSG00000266261	chromatin interactions
ENSG00000251537	chromatin interactions

Extended variants
information (count: 483 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200805718	chr17:15536585-15536586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201277153	chr17:15536592-15536593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370951515	chr17:15536625-15536626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577979820	chr17:15536690-15536691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148246623	chr17:15536752-15536753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560636822	chr17:15536765-15536766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201517731	chr17:15536767-15536768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147401421	chr17:15536774-15536775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548023897	chr17:15536797-15536798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140010731	chr17:15536818-15536819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374018652	chr17:15536825-15536826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182582835	chr17:15536830-15536831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555202357	chr17:15536855-15536856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75518465	chr17:15536870-15536871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186651376	chr17:15536885-15536886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376522824	chr17:15536917-15536918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370657820	chr17:15536922-15536923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570620892	chr17:15536956-15536957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539440867	chr17:15536957-15536958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546233731	chr17:15537042-15537043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189064675	chr17:15537055-15537056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535539768	chr17:15537093-15537094	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs144824975	chr17:15537143-15537144	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs75868487	chr17:15537150-15537151	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115700844	chr17:15537173-15537174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72819873	chr17:15537194-15537195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565120029	chr17:15537208-15537209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371146755	chr17:15537240-15537241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558444873	chr17:15537278-15537279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190296959	chr17:15537291-15537292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368492801	chr17:15537324-15537325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370710447	chr17:15537332-15537333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374126610	chr17:15537370-15537371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375102817	chr17:15537381-15537382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578146842	chr17:15537415-15537416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181098944	chr17:15537460-15537461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377302133	chr17:15537471-15537472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370912345	chr17:15537505-15537506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553873192	chr17:15537508-15537509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573844932	chr17:15537512-15537513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542692744	chr17:15537518-15537519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142248396	chr17:15537574-15537575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141336554	chr17:15537582-15537583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113217994	chr17:15537592-15537593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561584748	chr17:15537598-15537599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112122799	chr17:15537612-15537613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530974303	chr17:15537638-15537639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544048917	chr17:15537639-15537640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554820214	chr17:15537660-15537661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564410163	chr17:15537666-15537667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15519600-15538400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:15523000-15544000	Weak transcription	Brain Angular Gyrus	brain
3	chr17:15523000-15544200	Weak transcription	NHDF-Ad	bronchial
4	chr17:15523000-15548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:15523000-15548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr17:15523000-15548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:15523000-15548800	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:15523000-15548800	Weak transcription	Brain Substantia Nigra	brain
9	chr17:15523000-15548800	Weak transcription	Fetal Lung	lung
10	chr17:15523000-15551800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:15524200-15548600	Weak transcription	Esophagus	oesophagus
12	chr17:15527200-15538600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:15528200-15544400	Weak transcription	Psoas Muscle	Psoas
14	chr17:15529000-15549200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:15530000-15551800	Weak transcription	Right Ventricle	heart
17	chr17:15530000-15551800	Weak transcription	Small Intestine	intestine
18	chr17:15530200-15547400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:15530200-15548800	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:15530200-15549000	Weak transcription	Brain Germinal Matrix	brain
21	chr17:15530200-15552000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:15530400-15548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
25	chr17:15530600-15548800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:15531400-15549200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr17:15531600-15545400	Weak transcription	NHEK	skin
28	chr17:15531800-15536600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:15531800-15548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:15531800-15553600	Weak transcription	Fetal Kidney	kidney
31	chr17:15532200-15546800	Weak transcription	Osteobl	bone
32	chr17:15532200-15548600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:15532200-15548800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr17:15532400-15545400	Weak transcription	Hela-S3	cervix
35	chr17:15532400-15554000	Weak transcription	Ovary	ovary
36	chr17:15532600-15536800	Weak transcription	Primary T cells from cord blood	blood
37	chr17:15532600-15539200	Weak transcription	Fetal Intestine Small	intestine
38	chr17:15532600-15547400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:15532600-15548000	Weak transcription	Gastric	stomach
40	chr17:15532600-15548600	Weak transcription	Left Ventricle	heart
41	chr17:15532600-15548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:15533000-15536800	Strong transcription	HSMMtube	muscle
43	chr17:15533000-15537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:15533200-15548000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:15533400-15553000	Weak transcription	NHLF	lung
46	chr17:15533600-15544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:15533800-15537000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:15533800-15538600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:15533800-15543000	Weak transcription	Fetal Stomach	stomach
50	chr17:15533800-15544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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