Variant report

Variant	esv15885
Chromosome Location	chr4:125727333-125730018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs963915	chr4:125727347-125727348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17008645	chr4:125727356-125727357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532268774	chr4:125727361-125727362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543923344	chr4:125727392-125727393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73845302	chr4:125727406-125727407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529837855	chr4:125727420-125727421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549273623	chr4:125727441-125727442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190330833	chr4:125727457-125727458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145761877	chr4:125727463-125727464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75642836	chr4:125727477-125727478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552167732	chr4:125727501-125727502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs963914	chr4:125727521-125727522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7657250	chr4:125727539-125727540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556374593	chr4:125727558-125727559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79826983	chr4:125727642-125727643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6814312	chr4:125727701-125727702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77890177	chr4:125727727-125727728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546493236	chr4:125727731-125727732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575347965	chr4:125727753-125727754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558591368	chr4:125727792-125727793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148966838	chr4:125727879-125727880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193184827	chr4:125727904-125727905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10015945	chr4:125727923-125727924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112891589	chr4:125727947-125727948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539127989	chr4:125727982-125727983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72683849	chr4:125728042-125728043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185162890	chr4:125728085-125728086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116079097	chr4:125728087-125728088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114148002	chr4:125728119-125728120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527602712	chr4:125728122-125728123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569052969	chr4:125728129-125728130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143703555	chr4:125728174-125728175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147676891	chr4:125728187-125728188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539998928	chr4:125728207-125728208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369746078	chr4:125728211-125728212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564182218	chr4:125728230-125728231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142332070	chr4:125728252-125728253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555640196	chr4:125728253-125728254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201366256	chr4:125728297-125728298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199541244	chr4:125728298-125728299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200705910	chr4:125728300-125728301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550277133	chr4:125728301-125728302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568449128	chr4:125728382-125728383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147016520	chr4:125728408-125728409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148068480	chr4:125728416-125728417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111761279	chr4:125728417-125728418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72396515	chr4:125728418-125728419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35347461	chr4:125728419-125728420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548034613	chr4:125728466-125728467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10518443	chr4:125728477-125728478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125724600-125759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125726600-125731400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:125726800-125731200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:125727200-125727800	Enhancers	Brain Germinal Matrix	brain
5	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:125727600-125727800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:125728200-125729400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:125728400-125729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:125728600-125729400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:125728800-125729200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:125729000-125729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:125729000-125731600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:125729200-125731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:125729400-125729600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:125729400-125731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:125729400-125731600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:125729600-125730800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:125729600-125731800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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