Variant report

Variant	nsv970798
Chromosome Location	chr7:14226914-14234406
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	CTCF	chr7:14232525-14232577	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr7:14233629-14233669	Lung_OC	lung:	n/a	n/a
3	CTCF	chr7:14229702-14229736	Spleen_OC	spleen:	n/a	n/a
4	E2F4	chr7:14230413-14230522	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr7:14231300-14231800	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr7:14231343-14231834	SK-N-SH_RA	brain:	n/a	n/a
7	FOS	chr7:14231460-14231835	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:14231461-14231806	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:14231500-14231827	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:14231449-14231833	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr7:14231434-14231889	HCT-116	colon:	n/a	n/a
12	FOSL1	chr7:14231363-14231967	HCT-116	colon:	n/a	n/a
13	FOSL2	chr7:14231533-14231884	SK-N-SH	brain:	n/a	n/a
14	FOSL2	chr7:14231370-14231969	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr7:14231270-14231980	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr7:14231240-14231972	SK-N-SH	brain:	n/a	n/a
17	JUND	chr7:14231390-14231986	SK-N-SH	brain:	n/a	n/a
18	JUND	chr7:14231457-14231893	HCT-116	colon:	n/a	n/a
19	JUND	chr7:14231455-14231837	HCT-116	colon:	n/a	n/a
20	JUND	chr7:14231182-14231981	SK-N-SH	brain:	n/a	n/a
21	KAP1	chr7:14233880-14234343	K562	blood:	n/a	n/a
22	MAFF	chr7:14231222-14231546	HepG2	liver:	n/a	n/a
23	MAFK	chr7:14231227-14231543	HepG2	liver:	n/a	n/a
24	MAFK	chr7:14231185-14231557	IMR90	lung:	n/a	n/a
25	MAFK	chr7:14231265-14231465	K562	blood:	n/a	n/a
26	MAFK	chr7:14231195-14231549	HepG2	liver:	n/a	n/a
27	MAFK	chr7:14231292-14231432	Hela-S3	cervix:	n/a	n/a
28	NFIC	chr7:14231238-14231814	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr7:14231159-14231937	SK-N-SH	brain:	n/a	n/a
30	PBX3	chr7:14231267-14231938	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:14226958-14226985	A549	lung:	n/a	n/a
32	POLR2A	chr7:14231478-14231781	U87	brain:	n/a	n/a
33	POLR2A	chr7:14226883-14227061	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:14231424-14231842	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr7:14232369-14232608	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr7:14231399-14231814	SK-N-SH_RA	brain:	n/a	n/a
37	STAT3	chr7:14231458-14231770	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr7:14231289-14231757	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr7:14231490-14231638	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr7:14231458-14231758	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF12	chr7:14231178-14231948	SK-N-SH	brain:	n/a	n/a
42	WRNIP1	chr7:14230764-14230833	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
EEF1A1P26	TF binding region

Extended variants
information (count: 327 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536250116	chr7:14226933-14226934	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73271740	chr7:14226980-14226981	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572757343	chr7:14226985-14226986	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs545052303	chr7:14227060-14227061	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532564848	chr7:14227069-14227070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374199809	chr7:14227086-14227087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17763495	chr7:14227099-14227100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577801676	chr7:14227129-14227130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191525178	chr7:14227147-14227148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374270162	chr7:14227169-14227170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563638658	chr7:14227177-14227178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376465132	chr7:14227187-14227188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566173932	chr7:14227214-14227215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74482085	chr7:14227222-14227223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181581823	chr7:14227225-14227226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372936234	chr7:14227274-14227275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551832016	chr7:14227276-14227277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529454034	chr7:14227277-14227278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113481748	chr7:14227292-14227293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530715637	chr7:14227304-14227305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185469244	chr7:14227339-14227340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2158828	chr7:14227425-14227426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144773112	chr7:14227431-14227432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553005271	chr7:14227439-14227440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12534111	chr7:14227472-14227473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538282236	chr7:14227591-14227592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145581814	chr7:14227597-14227598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575043871	chr7:14227621-14227622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2108204	chr7:14227647-14227648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557092924	chr7:14227697-14227698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147733992	chr7:14227748-14227749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76684303	chr7:14227870-14227871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189911643	chr7:14227897-14227898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564407480	chr7:14227898-14227899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79561314	chr7:14227917-14227918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565373298	chr7:14227978-14227979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530976976	chr7:14227984-14227985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182225656	chr7:14228007-14228008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370720720	chr7:14228008-14228009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567433002	chr7:14228035-14228036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529935209	chr7:14228039-14228040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375331765	chr7:14228074-14228075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186524003	chr7:14228098-14228099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566695789	chr7:14228101-14228102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538626977	chr7:14228113-14228114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558220569	chr7:14228149-14228150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6974081	chr7:14228176-14228177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537517071	chr7:14228180-14228181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554268024	chr7:14228210-14228211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573875680	chr7:14228217-14228218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14224400-14231200	Weak transcription	Left Ventricle	heart
2	chr7:14226800-14227200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:14231000-14231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:14231200-14231600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:14231200-14231600	Enhancers	Left Ventricle	heart
6	chr7:14231200-14232200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:14231400-14231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:14231600-14234800	Weak transcription	Left Ventricle	heart
9	chr7:14231600-14236600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:14231800-14235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:14231800-14235600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:14232200-14234800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:14232800-14233400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:14233600-14237800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:14233800-14234600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:14233800-14238000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:14234400-14234600	Enhancers	Brain Anterior Caudate	brain
18	chr7:14234400-14234600	Enhancers	Brain Substantia Nigra	brain
19	chr7:14234400-14234800	Enhancers	Brain Germinal Matrix	brain
20	chr7:14234400-14235200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:14234400-14235200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:14234400-14236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:14234400-14236000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:14234400-14236000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:14234400-14237200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links