Variant report

Variant	nsv290709
Chromosome Location	chr4:79359178-79361167
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	EP300	chr4:79358695-79359410	SK-N-SH	brain:	n/a	chr4:79359073-79359087
2	FOS	chr4:79360527-79360850	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:79360561-79360811	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:79360527-79360842	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:79360533-79360856	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr4:79360473-79360923	A549	lung:	n/a	n/a
7	FOSL2	chr4:79360469-79361002	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr4:79358524-79359552	SK-N-SH	brain:	n/a	chr4:79358936-79358945 chr4:79359140-79359149
9	GATA3	chr4:79358632-79359540	SK-N-SH	brain:	n/a	chr4:79358936-79358945 chr4:79359140-79359149
10	JUND	chr4:79360616-79360772	HepG2	liver:	n/a	chr4:79360690-79360701
11	JUND	chr4:79358760-79359469	SK-N-SH	brain:	n/a	chr4:79358938-79358946 chr4:79358938-79358946 chr4:79358938-79358945
12	NFIC	chr4:79358824-79359393	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr4:79360443-79360820	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr4:79358670-79359345	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr4:79358632-79359927	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr4:79358811-79359329	SK-N-SH	brain:	n/a	n/a
17	TEAD4	chr4:79358919-79359374	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372326543	chr4:79359178-79359179	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs562818403	chr4:79359210-79359211	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531803141	chr4:79359304-79359305	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148887366	chr4:79359370-79359371	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567422734	chr4:79359382-79359383	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536597281	chr4:79359480-79359481	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143553145	chr4:79359546-79359547	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184341479	chr4:79359568-79359569	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs17003218	chr4:79359638-79359639	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374863020	chr4:79359646-79359647	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189572762	chr4:79359659-79359660	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575261298	chr4:79359684-79359685	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368190849	chr4:79359691-79359692	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371758589	chr4:79359692-79359693	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554744174	chr4:79359696-79359697	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs17003219	chr4:79359704-79359705	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369761349	chr4:79359715-79359716	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181224126	chr4:79359723-79359724	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142473690	chr4:79359738-79359739	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577194929	chr4:79359752-79359753	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs373496578	chr4:79359769-79359770	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375054937	chr4:79359771-79359772	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369759058	chr4:79359776-79359777	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373255053	chr4:79359780-79359781	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377147992	chr4:79359796-79359797	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2170899	chr4:79359885-79359886	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs545066065	chr4:79359895-79359896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562866809	chr4:79359935-79359936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186403342	chr4:79359950-79359951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144587212	chr4:79359969-79359970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115330554	chr4:79359980-79359981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115364666	chr4:79359988-79359989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373259681	chr4:79359992-79359993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141568854	chr4:79360007-79360008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372992206	chr4:79360019-79360020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150916370	chr4:79360063-79360064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139355713	chr4:79360114-79360115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551893120	chr4:79360123-79360124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371139803	chr4:79360131-79360132	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200477457	chr4:79360163-79360164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368657359	chr4:79360203-79360204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371150365	chr4:79360215-79360216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190115805	chr4:79360254-79360255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374379872	chr4:79360270-79360271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374906040	chr4:79360296-79360297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375279944	chr4:79360307-79360308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565299442	chr4:79360324-79360325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572960112	chr4:79360340-79360341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568349090	chr4:79360341-79360342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534103494	chr4:79360366-79360367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:79339600-79360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:79339600-79360600	Weak transcription	HMEC	breast
9	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
11	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79340000-79374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:79340400-79362800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79341800-79372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:79344200-79370800	Weak transcription	Fetal Heart	heart
17	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
18	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
19	chr4:79349600-79362000	Weak transcription	Right Atrium	heart
20	chr4:79353000-79361600	Weak transcription	HepG2	liver
21	chr4:79354000-79360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:79354000-79362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:79354000-79362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
25	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79354200-79359600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:79354200-79359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79354200-79359800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79354200-79363000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
31	chr4:79354400-79360000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
33	chr4:79354800-79369200	Weak transcription	Fetal Intestine Large	intestine
34	chr4:79355200-79359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:79356400-79359600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79356600-79361200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:79357800-79359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:79358000-79360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:79358200-79360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:79358400-79364800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:79358800-79359400	Enhancers	Brain Hippocampus Middle	brain
42	chr4:79358800-79375400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:79359000-79359600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:79359000-79364800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:79359200-79364200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:79359600-79359800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:79359600-79360000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:79359600-79360400	Enhancers	A549	lung
49	chr4:79359600-79360600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:79359600-79365000	Strong transcription	H1 Cell Line	embryonic stem cell

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