Variant report

Variant	nsv818244
Chromosome Location	chr4:77094831-77096777
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	chr4:77095699..77097520-chr4:77262077..77264592,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2869851	chr4:77094831-77094832	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541037052	chr4:77094839-77094840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140276945	chr4:77094853-77094854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187476731	chr4:77094865-77094866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543192470	chr4:77094883-77094884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529766404	chr4:77094888-77094889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563484249	chr4:77094952-77094953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190369487	chr4:77094973-77094974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376072670	chr4:77094999-77095000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144228170	chr4:77095017-77095018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182995177	chr4:77095035-77095036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17001559	chr4:77095048-77095049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551366827	chr4:77095094-77095095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571599542	chr4:77095103-77095104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560179040	chr4:77095118-77095119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537535206	chr4:77095119-77095120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550822076	chr4:77095141-77095142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13119254	chr4:77095143-77095144	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368146062	chr4:77095152-77095153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553662321	chr4:77095207-77095208	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs41284767	chr4:77095215-77095216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs375697471	chr4:77095226-77095227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557723964	chr4:77095229-77095230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577602162	chr4:77095243-77095244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147948083	chr4:77095249-77095250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200948493	chr4:77095257-77095258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3821981	chr4:77095271-77095272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs377508475	chr4:77095327-77095328	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148780369	chr4:77095338-77095339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142392473	chr4:77095372-77095373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148588727	chr4:77095377-77095378	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150870503	chr4:77095380-77095381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377511764	chr4:77095387-77095388	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139315203	chr4:77095409-77095410	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs121909118	chr4:77095429-77095430	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149997095	chr4:77095440-77095441	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188036542	chr4:77095465-77095466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201397845	chr4:77095474-77095475	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192364653	chr4:77095491-77095492	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200306963	chr4:77095514-77095515	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184267899	chr4:77095523-77095524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565258973	chr4:77095529-77095530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538835629	chr4:77095530-77095531	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551015905	chr4:77095560-77095561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3733257	chr4:77095574-77095575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs3733258	chr4:77095589-77095590	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs187842769	chr4:77095606-77095607	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567109302	chr4:77095650-77095651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76917908	chr4:77095657-77095658	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559016181	chr4:77095700-77095701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	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
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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:77078200-77100600	Weak transcription	K562	blood
4	chr4:77078600-77100800	Strong transcription	Placenta	Placenta
5	chr4:77079200-77098000	Strong transcription	Fetal Muscle Leg	muscle
6	chr4:77079200-77100800	Strong transcription	Liver	Liver
7	chr4:77079400-77097200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr4:77079400-77098800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:77079400-77100000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:77079400-77100800	Strong transcription	Fetal Intestine Large	intestine
11	chr4:77079400-77101400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr4:77079400-77108200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:77079600-77098800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:77079600-77099000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr4:77079600-77101200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:77079600-77101400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:77079800-77098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:77079800-77101000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:77080400-77098400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
21	chr4:77080800-77099000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:77080800-77101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:77080800-77101200	Strong transcription	NHDF-Ad	bronchial
24	chr4:77081000-77097000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:77081000-77097400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:77081000-77097400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:77081400-77099200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr4:77081600-77097200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:77081600-77097400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:77082200-77096800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:77082200-77097400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:77082200-77098000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:77082400-77098000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:77082400-77101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:77082600-77100800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:77082800-77098000	Strong transcription	Lung	lung
37	chr4:77083200-77112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:77085200-77096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:77087000-77097800	Strong transcription	Brain Anterior Caudate	brain
40	chr4:77087000-77101400	Strong transcription	Fetal Lung	lung
41	chr4:77087400-77098800	Strong transcription	HSMM	muscle
42	chr4:77087600-77097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:77087800-77097800	Strong transcription	Dnd41	blood
44	chr4:77088200-77098000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:77088200-77101400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:77089200-77097000	Strong transcription	NHLF	lung
47	chr4:77089400-77095600	Strong transcription	NHEK	skin
48	chr4:77090000-77113600	Weak transcription	A549	lung
49	chr4:77090200-77095000	Weak transcription	Spleen	Spleen
50	chr4:77090200-77098600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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