Variant report

Variant	nsv292546
Chromosome Location	chr4:74481983-74484018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74472437..74474107-chr4:74481794..74484124,2	MCF-7	breast:
2	chr4:74475388..74478250-chr4:74479848..74483850,3	K562	blood:
3	chr4:74475388..74478250-chr4:74479848..74482817,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62312149	chr4:74481985-74481986	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371687400	chr4:74482012-74482013	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541541534	chr4:74482085-74482086	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374786927	chr4:74482285-74482286	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559589161	chr4:74482312-74482313	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1247599	chr4:74482317-74482318	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79909807	chr4:74482347-74482348	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs57165686	chr4:74482385-74482386	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192720851	chr4:74482396-74482397	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563340526	chr4:74482565-74482566	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531251779	chr4:74482580-74482581	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147198260	chr4:74482611-74482612	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567284726	chr4:74482624-74482625	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs80253254	chr4:74482669-74482670	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185407749	chr4:74482701-74482702	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75599757	chr4:74482706-74482707	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189484216	chr4:74482714-74482715	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181549294	chr4:74482757-74482758	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185985938	chr4:74482811-74482812	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538302118	chr4:74482831-74482832	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528942934	chr4:74482899-74482900	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556760208	chr4:74482906-74482907	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142902840	chr4:74482937-74482938	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567687767	chr4:74482939-74482940	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554545255	chr4:74483005-74483006	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574023861	chr4:74483047-74483048	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs1247598	chr4:74483054-74483055	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs33986730	chr4:74483077-74483078	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188496346	chr4:74483085-74483086	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372065187	chr4:74483089-74483090	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545487026	chr4:74483156-74483157	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144577240	chr4:74483170-74483171	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531107776	chr4:74483211-74483212	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34818129	chr4:74483219-74483220	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535088695	chr4:74483239-74483240	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181159795	chr4:74483319-74483320	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543355611	chr4:74483384-74483385	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537081453	chr4:74483388-74483389	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111665460	chr4:74483432-74483433	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553514367	chr4:74483433-74483434	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528121917	chr4:74483456-74483457	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528744540	chr4:74483469-74483470	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546283024	chr4:74483510-74483511	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570883987	chr4:74483517-74483518	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573844642	chr4:74483532-74483533	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1247597	chr4:74483570-74483571	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77760385	chr4:74483608-74483609	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568739321	chr4:74483609-74483610	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536055166	chr4:74483616-74483617	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs190613377	chr4:74483645-74483646	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
2	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:74472800-74483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:74474800-74483200	Weak transcription	Small Intestine	intestine
5	chr4:74475600-74482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:74476200-74484400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:74476400-74484600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:74476800-74482400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:74477400-74482400	Enhancers	HMEC	breast
10	chr4:74477400-74485000	Weak transcription	A549	lung
11	chr4:74478600-74485800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:74479400-74485000	Weak transcription	Placenta	Placenta
13	chr4:74480200-74482800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:74480200-74485000	Weak transcription	Gastric	stomach
15	chr4:74481200-74482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:74481200-74482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74481200-74482400	Enhancers	NHEK	skin
18	chr4:74481400-74482000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:74481600-74482000	Flanking Active TSS	Fetal Thymus	thymus
20	chr4:74481600-74483000	Active TSS	Thymus	Thymus
21	chr4:74481600-74485000	Weak transcription	Fetal Kidney	kidney
22	chr4:74481600-74486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:74481800-74482800	Weak transcription	Stomach Mucosa	stomach
24	chr4:74481800-74483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:74481800-74484800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:74481800-74485000	Weak transcription	Pancreas	Pancrea
27	chr4:74482000-74482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:74482000-74483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:74482000-74483000	Active TSS	Fetal Thymus	thymus
30	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:74482400-74482600	Flanking Active TSS	NHEK	skin
32	chr4:74482400-74483400	Flanking Active TSS	HMEC	breast
33	chr4:74482400-74483800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:74482600-74483000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:74482600-74483000	Enhancers	NHEK	skin
36	chr4:74482800-74483000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:74482800-74483200	Active TSS	Stomach Mucosa	stomach
38	chr4:74482800-74483200	Active TSS	GM12878-XiMat	blood
39	chr4:74482800-74483400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:74483000-74483200	Enhancers	Esophagus	oesophagus
41	chr4:74483000-74483200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:74483000-74483200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
43	chr4:74483000-74483400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:74483000-74483400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:74483000-74483400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:74483000-74483400	Flanking Active TSS	Thymus	Thymus
47	chr4:74483000-74483400	Flanking Active TSS	NHEK	skin
48	chr4:74483000-74484400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:74483200-74483400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:74483200-74483400	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links