Variant report

Variant	nsv292335
Chromosome Location	chr4:95197059-95203357
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	chr4:95189680..95192048-chr4:95196636..95198431,2	K562	blood:
2	chr4:95185779..95187283-chr4:95195279..95198245,2	K562	blood:

Variant related genes	Relation type
ENSG00000163104	chromatin interactions

Extended variants
information (count: 305 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369631512	chr4:95197072-95197073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534717756	chr4:95197077-95197078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555209721	chr4:95197094-95197095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575038822	chr4:95197109-95197110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13131414	chr4:95197110-95197111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557317290	chr4:95197111-95197112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577001375	chr4:95197122-95197123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545956599	chr4:95197150-95197151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559370929	chr4:95197184-95197185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530196486	chr4:95197190-95197191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182255089	chr4:95197195-95197196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561977302	chr4:95197200-95197201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530718773	chr4:95197218-95197219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187281314	chr4:95197280-95197281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190591086	chr4:95197309-95197310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532447436	chr4:95197329-95197330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111838760	chr4:95197330-95197331	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115516781	chr4:95197335-95197336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534976590	chr4:95197367-95197368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182768487	chr4:95197394-95197395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376060629	chr4:95197447-95197448	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370394907	chr4:95197456-95197457	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200103737	chr4:95197463-95197464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568730798	chr4:95197470-95197471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376607169	chr4:95197481-95197482	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201056294	chr4:95197485-95197486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111425618	chr4:95197502-95197503	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6823404	chr4:95197520-95197521	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199891976	chr4:95197553-95197554	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147108123	chr4:95197571-95197572	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151125076	chr4:95197608-95197609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79901365	chr4:95197625-95197626	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202131764	chr4:95197648-95197649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187053047	chr4:95197656-95197657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529556855	chr4:95197662-95197663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113394539	chr4:95197665-95197666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373304622	chr4:95197676-95197677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544207145	chr4:95197730-95197731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564059892	chr4:95197732-95197733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532927457	chr4:95197739-95197740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540047232	chr4:95197742-95197743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112567098	chr4:95197773-95197774	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28539776	chr4:95197792-95197793	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150204964	chr4:95197794-95197795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs72886746	chr4:95197815-95197816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114726255	chr4:95197817-95197818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531215268	chr4:95197831-95197832	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551269444	chr4:95197860-95197861	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200556343	chr4:95197870-95197871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571178586	chr4:95197916-95197917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 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:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
2	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:95138800-95214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:95146000-95214200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:95146200-95214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:95146200-95214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:95151400-95214400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:95152200-95202000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95158200-95225800	Weak transcription	Stomach Mucosa	stomach
10	chr4:95161400-95207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:95163000-95200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:95163000-95210200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:95164400-95202800	Weak transcription	Pancreas	Pancrea
14	chr4:95164600-95200200	Weak transcription	Lung	lung
15	chr4:95164600-95200200	Weak transcription	Spleen	Spleen
16	chr4:95165000-95198000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:95165400-95200000	Weak transcription	Fetal Brain Male	brain
18	chr4:95165400-95202800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:95167600-95200200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:95167800-95199800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:95167800-95200200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:95167800-95200200	Weak transcription	Fetal Stomach	stomach
23	chr4:95167800-95212800	Weak transcription	Esophagus	oesophagus
24	chr4:95168000-95214200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:95168600-95198200	Weak transcription	Psoas Muscle	Psoas
26	chr4:95172600-95198400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:95172600-95202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:95174400-95200000	Weak transcription	Fetal Kidney	kidney
29	chr4:95174400-95200200	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:95174600-95198000	Weak transcription	Brain Anterior Caudate	brain
31	chr4:95174600-95199200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:95174600-95199800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:95174800-95200000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:95174800-95200000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:95175000-95198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:95175000-95198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:95175000-95198800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:95175000-95198800	Weak transcription	HSMMtube	muscle
39	chr4:95175600-95198000	Weak transcription	Brain Angular Gyrus	brain
40	chr4:95175800-95200200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:95177000-95214000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:95180400-95198000	Weak transcription	Fetal Heart	heart
43	chr4:95184400-95200000	Weak transcription	Brain Substantia Nigra	brain
44	chr4:95184800-95198200	Weak transcription	NHEK	skin
45	chr4:95185200-95226800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:95185400-95213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:95185800-95214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:95186000-95206000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:95187800-95197600	Weak transcription	Hela-S3	cervix
50	chr4:95187800-95208800	Strong transcription	Liver	Liver

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