Variant report

Variant	nsv967763
Chromosome Location	chr4:75097295-75098195
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	chr4:75023499..75025641-chr4:75097703..75100691,2	K562	blood:
2	chr4:75097927..75100406-chr4:75102183..75105181,2	K562	blood:

Variant related genes	Relation type
ENSG00000163738	chromatin interactions
ENSG00000269559	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559346177	chr4:75097353-75097354	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577571234	chr4:75097359-75097360	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544990043	chr4:75097362-75097363	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11721648	chr4:75097390-75097391	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531087816	chr4:75097391-75097392	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1246575	chr4:75097488-75097489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs538186517	chr4:75097490-75097491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555265379	chr4:75097512-75097513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561289891	chr4:75097528-75097529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547855816	chr4:75097545-75097546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147792946	chr4:75097670-75097671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568677174	chr4:75097742-75097743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192431190	chr4:75097829-75097830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571272460	chr4:75097872-75097873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34124413	chr4:75098021-75098022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185027892	chr4:75098069-75098070	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568293976	chr4:75098098-75098099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566209748	chr4:75098121-75098122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534341215	chr4:75098127-75098128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554401513	chr4:75098134-75098135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75072200-75099200	Weak transcription	Ovary	ovary
2	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:75085400-75102600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:75086200-75117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:75090400-75102200	Weak transcription	Pancreas	Pancrea
6	chr4:75091800-75103200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:75093000-75105000	Weak transcription	Lung	lung
8	chr4:75093000-75117400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:75093200-75100600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:75093600-75101000	Weak transcription	Liver	Liver
11	chr4:75095000-75097400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:75095000-75098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:75096000-75097600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:75096200-75097400	Enhancers	Stomach Mucosa	stomach
15	chr4:75096200-75097600	Enhancers	NHLF	lung
16	chr4:75096400-75097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:75096400-75097400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:75096400-75097400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:75096400-75097400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:75096400-75097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:75096400-75097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:75096400-75097400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:75096400-75097400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:75096400-75097400	Enhancers	HMEC	breast
25	chr4:75096400-75097400	Flanking Active TSS	HSMMtube	muscle
26	chr4:75096400-75097400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr4:75096400-75097400	Flanking Active TSS	Osteobl	bone
28	chr4:75096600-75097400	Enhancers	Adipose Nuclei	Adipose
29	chr4:75096600-75097400	Enhancers	Fetal Heart	heart
30	chr4:75096600-75097400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:75096800-75097400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr4:75096800-75098200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:75097000-75097400	Enhancers	Psoas Muscle	Psoas
34	chr4:75097000-75097400	Flanking Active TSS	Hela-S3	cervix
35	chr4:75097000-75097400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr4:75097000-75098400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:75097000-75101000	Weak transcription	GM12878-XiMat	blood
38	chr4:75097200-75097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:75097200-75097400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr4:75097200-75097600	Enhancers	HSMM	muscle
41	chr4:75097200-75097600	Enhancers	NHEK	skin
42	chr4:75097200-75097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:75097200-75097800	Enhancers	HUVEC	blood vessel
44	chr4:75097200-75098400	Enhancers	A549	lung
45	chr4:75097400-75097600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:75097400-75097600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr4:75097400-75098200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:75097400-75098400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:75097400-75098400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:75097400-75098400	Enhancers	HSMMtube	muscle

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