Variant report

Variant	esv3395495
Chromosome Location	chr4:62274057-62276580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113009999	chr4:62274132-62274133	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200248286	chr4:62274133-62274134	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62305278	chr4:62274147-62274148	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78082006	chr4:62274330-62274331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527867925	chr4:62274381-62274382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182751016	chr4:62274383-62274384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74819062	chr4:62274389-62274390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552925979	chr4:62274411-62274412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537480890	chr4:62274451-62274452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148798825	chr4:62274523-62274524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549380932	chr4:62274536-62274537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571126435	chr4:62274604-62274605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13107100	chr4:62274626-62274627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553545524	chr4:62274676-62274677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187721202	chr4:62274693-62274694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191392034	chr4:62274721-62274722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550423936	chr4:62274776-62274777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554938825	chr4:62274795-62274796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576422163	chr4:62274809-62274810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543714383	chr4:62274880-62274881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547091413	chr4:62274946-62274947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568535668	chr4:62274948-62274949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7660930	chr4:62274963-62274964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201419553	chr4:62274974-62274975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187036122	chr4:62274987-62274988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35295982	chr4:62275010-62275011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560377062	chr4:62275043-62275044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201028487	chr4:62275079-62275080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112488684	chr4:62275089-62275090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs33993959	chr4:62275090-62275091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549148667	chr4:62275093-62275094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557899698	chr4:62275100-62275101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368791418	chr4:62275121-62275122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374455280	chr4:62275122-62275123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10573056	chr4:62275123-62275124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543759291	chr4:62275124-62275125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71830613	chr4:62275128-62275129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71211381	chr4:62275138-62275139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561110449	chr4:62275171-62275172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7685384	chr4:62275178-62275179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531902996	chr4:62275300-62275301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191930888	chr4:62275331-62275332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367951118	chr4:62275381-62275382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6818561	chr4:62275382-62275383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9685219	chr4:62275391-62275392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6843523	chr4:62275398-62275399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74703113	chr4:62275414-62275415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144274251	chr4:62275451-62275452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184407144	chr4:62275460-62275461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537354884	chr4:62275655-62275656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62272800-62274600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:62273000-62274400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:62273200-62274200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:62273200-62274200	Enhancers	Brain Anterior Caudate	brain
5	chr4:62273200-62274400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:62273200-62274400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:62273200-62274400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:62273400-62274200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:62273400-62274200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:62273400-62274200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:62273400-62274200	Enhancers	Fetal Lung	lung
12	chr4:62273400-62274400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:62273400-62282600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:62273400-62290400	Weak transcription	Fetal Stomach	stomach
15	chr4:62273600-62274200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:62273800-62274200	Active TSS	Brain Cingulate Gyrus	brain
17	chr4:62273800-62274200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr4:62274000-62274200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:62274000-62274200	Enhancers	Brain Substantia Nigra	brain
20	chr4:62274000-62274200	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr4:62274000-62274800	Enhancers	NHEK	skin
22	chr4:62274000-62275400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:62274200-62276400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:62274200-62277200	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:62274200-62288200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:62274600-62274800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:62276400-62276600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:62276400-62276600	ZNF genes & repeats	Aorta	Aorta
29	chr4:62276400-62276800	Enhancers	Brain Inferior Temporal Lobe	brain

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