Variant report

Variant	esv3325147
Chromosome Location	chr4:69982263-69985661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69981403..69984275-chr4:69989733..69991990,2	K562	blood:

Variant related genes	Relation type
ENSG00000251284	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533021383	chr4:69982302-69982303	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141124743	chr4:69982314-69982315	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566493009	chr4:69982388-69982389	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535410778	chr4:69982431-69982432	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531916421	chr4:69982461-69982462	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147436056	chr4:69982487-69982488	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568702106	chr4:69982502-69982503	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537364220	chr4:69982610-69982611	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115289561	chr4:69982722-69982723	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145286041	chr4:69982788-69982789	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577031487	chr4:69982797-69982798	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546601476	chr4:69982838-69982839	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370779192	chr4:69982839-69982840	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566679668	chr4:69982847-69982848	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147624713	chr4:69982850-69982851	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558537282	chr4:69982885-69982886	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76710568	chr4:69982893-69982894	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114497856	chr4:69982908-69982909	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542188956	chr4:69983035-69983036	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75062408	chr4:69983044-69983045	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71658474	chr4:69983045-69983046	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202222063	chr4:69983063-69983064	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370841371	chr4:69983064-69983065	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10544748	chr4:69983069-69983070	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72639735	chr4:69983070-69983071	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6600894	chr4:69983092-69983093	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74740350	chr4:69983157-69983158	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201341880	chr4:69983172-69983173	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564415926	chr4:69983180-69983181	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533158589	chr4:69983212-69983213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112378288	chr4:69983217-69983218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185255698	chr4:69983234-69983235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560178326	chr4:69983263-69983264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528996671	chr4:69983324-69983325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368182546	chr4:69983349-69983350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548934451	chr4:69983366-69983367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537647880	chr4:69983372-69983373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115964215	chr4:69983374-69983375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6600895	chr4:69983412-69983413	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371836529	chr4:69983444-69983445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550851150	chr4:69983482-69983483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570852598	chr4:69983491-69983492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539621333	chr4:69983499-69983500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553182561	chr4:69983551-69983552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373224762	chr4:69983567-69983568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189709490	chr4:69983583-69983584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182650810	chr4:69983584-69983585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188076213	chr4:69983663-69983664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575425056	chr4:69983666-69983667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575543169	chr4:69983678-69983679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69980400-69982800	Weak transcription	Liver	Liver
2	chr4:69981400-69982800	Enhancers	HepG2	liver
3	chr4:69981600-69982600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:69981600-69990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:69981800-69982800	Weak transcription	Gastric	stomach
6	chr4:69982000-69982800	Active TSS	Fetal Intestine Large	intestine
7	chr4:69982000-69982800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:69982000-69983000	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:69982000-69983200	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:69982200-69982400	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr4:69982400-69982800	Active TSS	Fetal Intestine Small	intestine
12	chr4:69982600-69983000	Active TSS	Hela-S3	cervix
13	chr4:69982800-69983000	Enhancers	Liver	Liver
14	chr4:69982800-69983000	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr4:69982800-69983000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr4:69982800-69983000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr4:69983000-69986200	Weak transcription	Fetal Intestine Small	intestine

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