Variant report

Variant	nsv1026276
Chromosome Location	chr7:15402966-15424706
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	ARID3A	chr7:15416281-15416587	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:15415765-15415909	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:15405775-15405910	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:15405781-15406007	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:15408089-15408100	K562	blood:	n/a	n/a
6	CTCF	chr7:15409060-15409210	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:15409157-15409165	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:15409020-15409170	AG04450	lung:	n/a	n/a
9	CTCF	chr7:15409020-15409170	HEK293	kidney:	n/a	n/a
10	CTCF	chr7:15409120-15409270	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr7:15410663-15410717	GM20000	blood:	n/a	n/a
12	CTCF	chr7:15409080-15409230	HCT-116	colon:	n/a	n/a
13	CTCF	chr7:15411227-15411266	GM13976	blood:	n/a	n/a
14	CTCF	chr7:15409109-15409208	Medullo	brain:	n/a	n/a
15	CTCF	chr7:15406442-15406510	Lung_OC	lung:	n/a	n/a
16	CTCF	chr7:15409120-15409270	Caco-2	colon:	n/a	n/a
17	CTCF	chr7:15408960-15409110	HCT-116	colon:	n/a	n/a
18	CTCF	chr7:15409138-15409217	Gliobla	brain:	n/a	n/a
19	CTCF	chr7:15409020-15409170	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr7:15421481-15421501	GM13976	blood:	n/a	n/a
21	EBF1	chr7:15415910-15415947	GM12878	blood:	n/a	n/a
22	EP300	chr7:15416292-15416552	HepG2	liver:	n/a	n/a
23	EP300	chr7:15405644-15405994	HepG2	liver:	n/a	n/a
24	FOXA1	chr7:15416305-15416616	HepG2	liver:	n/a	chr7:15416437-15416449
25	FOXA1	chr7:15405630-15405987	HepG2	liver:	n/a	n/a
26	FOXA1	chr7:15416183-15416640	HepG2	liver:	n/a	chr7:15416266-15416278 chr7:15416437-15416449
27	FOXA1	chr7:15416251-15416639	HepG2	liver:	n/a	chr7:15416266-15416278 chr7:15416437-15416449
28	FOXA1	chr7:15405706-15406011	HepG2	liver:	n/a	n/a
29	FOXA2	chr7:15405689-15406024	HepG2	liver:	n/a	n/a
30	FOXA2	chr7:15416316-15416524	HepG2	liver:	n/a	chr7:15416437-15416449
31	FOXA2	chr7:15416000-15416520	HepG2	liver:	n/a	chr7:15416266-15416278 chr7:15416437-15416449
32	FOXA2	chr7:15403212-15403429	HepG2	liver:	n/a	chr7:15403357-15403369
33	FOXA2	chr7:15408316-15408545	HepG2	liver:	n/a	n/a
34	GATA3	chr7:15422338-15422357	SH-SY5Y	brain:	n/a	n/a
35	IRF1	chr7:15419589-15419685	K562	blood:	n/a	n/a
36	JUN	chr7:15415772-15415957	K562	blood:	n/a	chr7:15415858-15415867
37	MAFF	chr7:15407571-15407882	HepG2	liver:	n/a	chr7:15407713-15407731
38	MAFK	chr7:15407549-15407892	HepG2	liver:	n/a	chr7:15407715-15407730 chr7:15407715-15407726
39	MAFK	chr7:15407552-15407871	IMR90	lung:	n/a	chr7:15407715-15407730 chr7:15407715-15407726
40	MAFK	chr7:15404907-15404990	HepG2	liver:	n/a	n/a
41	MAFK	chr7:15407563-15407868	HepG2	liver:	n/a	chr7:15407715-15407730 chr7:15407715-15407726
42	POLR2A	chr7:15407511-15407607	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr7:15411119-15411328	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:15418273-15418321	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:15408350-15408524	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:15423286-15423461	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:15415116-15415269	Gliobla	brain:	n/a	n/a
48	POLR2A	chr7:15422678-15422733	Gliobla	brain:	n/a	n/a
49	RAD21	chr7:15409007-15409237	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr7:15409017-15409253	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:15422858..15425258-chr7:15428818..15431707,2	K562	blood:

Variant related genes	Relation type
AGMO	TF binding region

Extended variants
information (count: 1375 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12699708	chr7:15402966-15402967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548337420	chr7:15402997-15402998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569735666	chr7:15403004-15403005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184971338	chr7:15403082-15403083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558569086	chr7:15403102-15403103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543917885	chr7:15403114-15403115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189774000	chr7:15403143-15403144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77233171	chr7:15403162-15403163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139779946	chr7:15403210-15403211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537967374	chr7:15403214-15403215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146273629	chr7:15403228-15403229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142814867	chr7:15403256-15403257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375132453	chr7:15403260-15403261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556519917	chr7:15403274-15403275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574560431	chr7:15403307-15403308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144501079	chr7:15403338-15403339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557464926	chr7:15403340-15403341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34022237	chr7:15403368-15403369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575731161	chr7:15403394-15403395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546426398	chr7:15403414-15403415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564762813	chr7:15403419-15403420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71525650	chr7:15403425-15403426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6971862	chr7:15403427-15403428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112193343	chr7:15403456-15403457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368358699	chr7:15403463-15403464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556113490	chr7:15403487-15403488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146673329	chr7:15403518-15403519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62450358	chr7:15403525-15403526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182396368	chr7:15403534-15403535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562970122	chr7:15403557-15403558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530607617	chr7:15403573-15403574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551961732	chr7:15403608-15403609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570365160	chr7:15403633-15403634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545625621	chr7:15403653-15403654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534623612	chr7:15403658-15403659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565542269	chr7:15403659-15403660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546552005	chr7:15403733-15403734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187996083	chr7:15403734-15403735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577597336	chr7:15403830-15403831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139076736	chr7:15403835-15403836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373965126	chr7:15403881-15403882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553086564	chr7:15403890-15403891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367790391	chr7:15403913-15403914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116272169	chr7:15403920-15403921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539605851	chr7:15403928-15403929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558388497	chr7:15403960-15403961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573550265	chr7:15403961-15403962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540943271	chr7:15403964-15403965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528685296	chr7:15403975-15403976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562395670	chr7:15403987-15403988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15402400-15404000	Weak transcription	Liver	Liver
2	chr7:15403800-15413800	Weak transcription	Left Ventricle	heart
3	chr7:15404000-15405200	Strong transcription	Liver	Liver
4	chr7:15405200-15414400	Weak transcription	Liver	Liver
5	chr7:15409800-15410400	Active TSS	Brain Hippocampus Middle	brain
6	chr7:15409800-15410600	Enhancers	Brain Angular Gyrus	brain
7	chr7:15410000-15412800	Weak transcription	Right Atrium	heart
8	chr7:15414400-15414600	Enhancers	Liver	Liver
9	chr7:15414600-15414800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:15414600-15415000	Weak transcription	Liver	Liver
11	chr7:15414800-15415800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:15415000-15416200	Enhancers	Liver	Liver
13	chr7:15415600-15416400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:15415600-15417200	Enhancers	Osteobl	bone
15	chr7:15415800-15417200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:15416200-15417200	Flanking Active TSS	Liver	Liver
17	chr7:15416400-15416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:15416400-15417000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:15416600-15417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:15417200-15417600	Enhancers	Liver	Liver
21	chr7:15417200-15418400	Weak transcription	Osteobl	bone
22	chr7:15417600-15421000	Weak transcription	Liver	Liver
23	chr7:15418400-15418600	Enhancers	Osteobl	bone
24	chr7:15421000-15423000	Strong transcription	Liver	Liver
25	chr7:15423000-15426600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links