Variant report

Variant	nsv966289
Chromosome Location	chr4:80506013-80509660
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	chr4:80507006-80507341	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr4:80507730-80508076	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:80507728-80508081	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:80507746-80508076	MCF10A-Er-Src	breast:	n/a	n/a
5	HDAC2	chr4:80507014-80507266	H1-hESC	embryonic stem cell:	n/a	n/a
6	NANOG	chr4:80507062-80507370	H1-hESC	embryonic stem cell:	n/a	chr4:80507271-80507280
7	POLR2A	chr4:80509104-80509122	Gliobla	brain:	n/a	n/a
8	SP1	chr4:80506986-80507380	H1-hESC	embryonic stem cell:	n/a	chr4:80507218-80507239
9	STAT3	chr4:80507766-80507966	MCF10A-Er-Src	breast:	n/a	n/a
10	TCF12	chr4:80506946-80507280	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr4:80506978-80507344	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr4:80506997-80507325	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr4:80506895-80507326	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR7E94P	TF binding region

Extended variants
information (count: 129 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148968710	chr4:80506030-80506031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569101880	chr4:80506034-80506035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566206465	chr4:80506041-80506042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62297587	chr4:80506047-80506048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188343023	chr4:80506050-80506051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143718602	chr4:80506150-80506151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs968176	chr4:80506234-80506235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs541079382	chr4:80506243-80506244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536365222	chr4:80506280-80506281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553114795	chr4:80506284-80506285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192529055	chr4:80506294-80506295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545328104	chr4:80506304-80506305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565571534	chr4:80506305-80506306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138356033	chr4:80506363-80506364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117207335	chr4:80506403-80506404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184361241	chr4:80506408-80506409	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114178551	chr4:80506417-80506418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142835788	chr4:80506443-80506444	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568791501	chr4:80506444-80506445	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560051234	chr4:80506496-80506497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532331107	chr4:80506524-80506525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537493586	chr4:80506563-80506564	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552126472	chr4:80506578-80506579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145026882	chr4:80506579-80506580	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1440852	chr4:80506589-80506590	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs550530354	chr4:80506618-80506619	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567335343	chr4:80506632-80506633	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1440853	chr4:80506647-80506648	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs78631468	chr4:80506665-80506666	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189085631	chr4:80506674-80506675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114017855	chr4:80506688-80506689	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73830540	chr4:80506692-80506693	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575875958	chr4:80506714-80506715	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1440854	chr4:80506734-80506735	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs192069803	chr4:80506752-80506753	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368853088	chr4:80506780-80506781	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574495394	chr4:80506866-80506867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12643376	chr4:80506876-80506877	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184830239	chr4:80506936-80506937	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560182281	chr4:80506952-80506953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376511580	chr4:80506973-80506974	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75434269	chr4:80507032-80507033	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77224773	chr4:80507049-80507050	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530930437	chr4:80507056-80507057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138809245	chr4:80507103-80507104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548085485	chr4:80507141-80507142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116186422	chr4:80507145-80507146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530032566	chr4:80507146-80507147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546720325	chr4:80507216-80507217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190260796	chr4:80507252-80507253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80497600-80506200	Weak transcription	Placenta	Placenta
2	chr4:80505600-80506600	Enhancers	Adipose Nuclei	Adipose
3	chr4:80505600-80507000	Enhancers	Colon Smooth Muscle	Colon
4	chr4:80505600-80507000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr4:80505600-80507400	Enhancers	Aorta	Aorta
6	chr4:80505800-80506400	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:80505800-80506600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:80506000-80507000	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:80506200-80506400	Enhancers	Psoas Muscle	Psoas
10	chr4:80506200-80506800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:80506200-80507000	Enhancers	Placenta	Placenta
12	chr4:80506200-80507200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:80506400-80506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:80506400-80506800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:80506400-80507000	Enhancers	Fetal Heart	heart
16	chr4:80506400-80507200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr4:80506600-80507000	Enhancers	Left Ventricle	heart
18	chr4:80506600-80507200	Enhancers	Right Atrium	heart
19	chr4:80506600-80507200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:80506800-80507200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:80506800-80507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:80506800-80507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:80506800-80507600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:80507000-80507200	Enhancers	Psoas Muscle	Psoas
25	chr4:80507000-80510000	Weak transcription	Placenta	Placenta
26	chr4:80507000-80511600	Weak transcription	Fetal Heart	heart
27	chr4:80507200-80507400	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:80507200-80519400	Weak transcription	Psoas Muscle	Psoas
29	chr4:80507400-80510200	Weak transcription	Stomach Smooth Muscle	stomach

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