Variant report

Variant	nsv819645
Chromosome Location	chr4:95157255-95157728
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	chr4:95157684..95160378-chr4:95163793..95166793,3	K562	blood:
2	chr4:95127789..95130549-chr4:95156882..95159861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163104	chromatin interactions
ENSG00000246541	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4693377	chr4:95157256-95157257	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527807022	chr4:95157373-95157374	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538290970	chr4:95157387-95157388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558015986	chr4:95157460-95157461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577961323	chr4:95157503-95157504	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573831597	chr4:95157504-95157505	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13102349	chr4:95157513-95157514	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185673938	chr4:95157524-95157525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543356838	chr4:95157549-95157550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563028148	chr4:95157550-95157551	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189228607	chr4:95157562-95157563	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545080334	chr4:95157575-95157576	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564867457	chr4:95157591-95157592	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34655122	chr4:95157596-95157597	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527259992	chr4:95157608-95157609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74693226	chr4:95157655-95157656	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547051597	chr4:95157668-95157669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374212634	chr4:95157707-95157708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95129800-95161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:95130000-95176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:95130200-95162600	Weak transcription	Pancreas	Pancrea
4	chr4:95130200-95162600	Weak transcription	Small Intestine	intestine
5	chr4:95130200-95164000	Weak transcription	Spleen	Spleen
6	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
7	chr4:95130200-95194000	Weak transcription	Gastric	stomach
8	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
9	chr4:95131200-95164400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:95131800-95161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:95131800-95169200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:95134800-95162400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:95134800-95162800	Weak transcription	Hela-S3	cervix
15	chr4:95135200-95162600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:95135200-95162800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:95135800-95160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:95136400-95157600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:95136600-95164800	Weak transcription	Fetal Brain Male	brain
20	chr4:95136600-95174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:95136800-95162600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:95137400-95162400	Weak transcription	Ovary	ovary
23	chr4:95137400-95162600	Weak transcription	Thymus	Thymus
24	chr4:95137400-95162800	Weak transcription	Psoas Muscle	Psoas
25	chr4:95137600-95162600	Weak transcription	Aorta	Aorta
26	chr4:95138000-95161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:95138200-95162400	Weak transcription	HSMMtube	muscle
28	chr4:95138400-95164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:95138800-95161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:95138800-95214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:95140200-95167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:95141000-95164400	Weak transcription	A549	lung
33	chr4:95141600-95162200	Weak transcription	Fetal Brain Female	brain
34	chr4:95142000-95159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:95142200-95164200	Weak transcription	NHLF	lung
36	chr4:95142800-95160800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:95143400-95162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:95145400-95175000	Strong transcription	Dnd41	blood
39	chr4:95146000-95214200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:95146200-95214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:95146200-95214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:95146600-95175800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:95147800-95168400	Strong transcription	Fetal Thymus	thymus
44	chr4:95148000-95169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:95148200-95180800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:95148400-95162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:95148400-95162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:95148800-95162200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:95148800-95162600	Weak transcription	Lung	lung
50	chr4:95148800-95164200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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