Variant report

Variant	esv3465527
Chromosome Location	chr4:79298887-79300749
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	chr4:79300420-79300570	GM12864	blood:	n/a	n/a
2	MAFK	chr4:79299340-79299409	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:79300353-79300384	Gliobla	brain:	n/a	n/a
4	SPI1	chr4:79300283-79300476	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA3-3	chr4:79300351-79300668	NONHSAT097065

Variant related genes	Relation type
MINOS1P4	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532872550	chr4:79298930-79298931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552876794	chr4:79298942-79298943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569550795	chr4:79298960-79298961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539794439	chr4:79298961-79298962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113363004	chr4:79298963-79298964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191259199	chr4:79298974-79298975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183168522	chr4:79298996-79298997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548280801	chr4:79299021-79299022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568586558	chr4:79299027-79299028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533989412	chr4:79299053-79299054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370092540	chr4:79299067-79299068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185855276	chr4:79299118-79299119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572664791	chr4:79299140-79299141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538565829	chr4:79299157-79299158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190606464	chr4:79299167-79299168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575431920	chr4:79299213-79299214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569245427	chr4:79299245-79299246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573364684	chr4:79299266-79299267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560677004	chr4:79299274-79299275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574487636	chr4:79299322-79299323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367915372	chr4:79299345-79299346	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539914095	chr4:79299374-79299375	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182939345	chr4:79299398-79299399	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532783181	chr4:79299442-79299443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546405149	chr4:79299455-79299456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74764032	chr4:79299456-79299457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531907627	chr4:79299487-79299488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548565660	chr4:79299515-79299516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568322080	chr4:79299552-79299553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527798466	chr4:79299701-79299702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7660922	chr4:79299720-79299721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1872266	chr4:79299796-79299797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs145053718	chr4:79299803-79299804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558328493	chr4:79299815-79299816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569138038	chr4:79299837-79299838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537712234	chr4:79299872-79299873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34031640	chr4:79299889-79299890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397792325	chr4:79299890-79299891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397740571	chr4:79299891-79299892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61048454	chr4:79299904-79299905	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369952857	chr4:79299910-79299911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377456751	chr4:79299923-79299924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540211976	chr4:79299929-79299930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187638430	chr4:79299941-79299942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375816327	chr4:79299943-79299944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369034599	chr4:79299951-79299952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs923020	chr4:79300016-79300017	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78775115	chr4:79300057-79300058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563023929	chr4:79300070-79300071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577658175	chr4:79300099-79300100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
2	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
3	chr4:79288000-79318400	Weak transcription	Pancreas	Pancrea
4	chr4:79288200-79300200	Weak transcription	HSMMtube	muscle
5	chr4:79288400-79300200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:79290200-79310800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:79291200-79308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:79291200-79314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:79291800-79300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:79291800-79301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:79291800-79306400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:79291800-79307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:79291800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:79292000-79300000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:79292000-79300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:79292000-79312000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:79292200-79301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:79292200-79306600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:79292200-79308400	Weak transcription	Fetal Lung	lung
20	chr4:79292200-79312200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:79292400-79310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:79292400-79312000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:79292600-79300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:79292600-79301200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:79293000-79300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:79293000-79300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:79293200-79299800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:79294000-79300800	Weak transcription	Fetal Heart	heart
29	chr4:79295400-79300800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:79295400-79301800	Weak transcription	Psoas Muscle	Psoas
31	chr4:79295600-79300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79295600-79300600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:79297000-79301200	Weak transcription	Fetal Intestine Large	intestine
35	chr4:79297200-79300400	Weak transcription	HepG2	liver
36	chr4:79297600-79300800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:79297600-79301800	Weak transcription	Fetal Kidney	kidney
38	chr4:79297600-79310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:79298000-79308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:79298200-79300800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:79298600-79299400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:79298800-79299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:79299000-79299400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:79299200-79299400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:79299200-79299400	Enhancers	NHDF-Ad	bronchial
46	chr4:79299400-79300200	Weak transcription	NHDF-Ad	bronchial
47	chr4:79299400-79302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:79299400-79308600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:79299800-79301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:79300000-79300800	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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