Variant report

Variant	esv3467199
Chromosome Location	chr4:75014018-75015442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75011353..75013399-chr4:75014178..75017069,2	K562	blood:
2	chr4:75011899..75013611-chr4:75013852..75015678,2	K562	blood:
3	chr4:75014766..75017413-chr4:75021945..75024735,2	MCF-7	breast:
4	chr4:75013764..75016584-chr4:75022049..75024231,2	MCF-7	breast:
5	chr4:75015218..75017263-chr4:75033299..75035722,2	K562	blood:
6	chr4:75015320..75016851-chr4:75026469..75028278,2	K562	blood:
7	chr4:74999598..75001723-chr4:75011238..75014051,2	K562	blood:

Variant related genes	Relation type
ENSG00000269559	chromatin interactions
ENSG00000163738	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544251604	chr4:75014021-75014022	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572274857	chr4:75014024-75014025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147385523	chr4:75014032-75014033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs386400497	chr4:75014033-75014034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs59508344	chr4:75014039-75014040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113405355	chr4:75014040-75014041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116803815	chr4:75014046-75014047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564284682	chr4:75014100-75014101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199901253	chr4:75014107-75014108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35766294	chr4:75014109-75014110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540452176	chr4:75014110-75014111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376248086	chr4:75014112-75014113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375494400	chr4:75014114-75014115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374338193	chr4:75014137-75014138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576261606	chr4:75014185-75014186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543635666	chr4:75014202-75014203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs75451741	chr4:75014376-75014377	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368599571	chr4:75014396-75014397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562879230	chr4:75014402-75014403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370604089	chr4:75014421-75014422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183029291	chr4:75014435-75014436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560509562	chr4:75014476-75014477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113510205	chr4:75014506-75014507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs60452831	chr4:75014512-75014513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78918649	chr4:75014589-75014590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs527698104	chr4:75014600-75014601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs193213197	chr4:75014608-75014609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538091057	chr4:75014634-75014635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549947792	chr4:75014655-75014656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568091603	chr4:75014681-75014682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs506678	chr4:75014690-75014691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184751900	chr4:75014729-75014730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187268005	chr4:75014736-75014737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555728	chr4:75014770-75014771	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537540344	chr4:75014810-75014811	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576392981	chr4:75014826-75014827	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145102512	chr4:75014850-75014851	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561897148	chr4:75014851-75014852	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146886104	chr4:75014856-75014857	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542275758	chr4:75014928-75014929	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs192204636	chr4:75014934-75014935	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs527632649	chr4:75014939-75014940	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552143263	chr4:75015119-75015120	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564474909	chr4:75015139-75015140	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531862343	chr4:75015165-75015166	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550128532	chr4:75015190-75015191	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs140713821	chr4:75015242-75015243	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145659425	chr4:75015244-75015245	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535205113	chr4:75015274-75015275	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs73827550	chr4:75015325-75015326	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75011800-75022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:75013200-75023200	Weak transcription	Psoas Muscle	Psoas
3	chr4:75013600-75014200	Weak transcription	NHEK	skin
4	chr4:75013800-75014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:75014000-75022000	Weak transcription	HMEC	breast
6	chr4:75014200-75014400	Strong transcription	NHEK	skin
7	chr4:75014400-75022200	Weak transcription	NHEK	skin
8	chr4:75014800-75016000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:75015400-75015800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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