Variant report

Variant	nsv525135
Chromosome Location	chr4:7955488-7959029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7939022..7943379-chr4:7955959..7960860,7	MCF-7	breast:
2	chr4:7958027..7960096-chr4:7963574..7966311,3	MCF-7	breast:
3	chr4:7953204..7956072-chr4:7960320..7962500,2	MCF-7	breast:
4	chr4:7948820..7951616-chr4:7956556..7958489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	chromatin interactions
ENSG00000228919	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11732351	chr4:7955488-7955489	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs573428664	chr4:7955539-7955540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540837118	chr4:7955551-7955552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561903981	chr4:7955562-7955563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182875976	chr4:7955573-7955574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62290610	chr4:7955596-7955597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568387075	chr4:7955616-7955617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186638794	chr4:7955622-7955623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552218221	chr4:7955628-7955629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540329714	chr4:7955636-7955637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528342377	chr4:7955694-7955695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546827739	chr4:7955701-7955702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568216721	chr4:7955715-7955716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191841756	chr4:7955733-7955734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551076658	chr4:7955735-7955736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201290444	chr4:7955742-7955743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114768291	chr4:7955766-7955767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539841272	chr4:7955791-7955792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147288893	chr4:7955847-7955848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376589587	chr4:7955896-7955897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534179792	chr4:7955897-7955898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28482917	chr4:7956027-7956028	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184044168	chr4:7956035-7956036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114191149	chr4:7956036-7956037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28570286	chr4:7956050-7956051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572720416	chr4:7956103-7956104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563022822	chr4:7956111-7956112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115233229	chr4:7956198-7956199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111523990	chr4:7956247-7956248	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs28853034	chr4:7956272-7956273	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140964483	chr4:7956292-7956293	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528392469	chr4:7956324-7956325	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62290611	chr4:7956358-7956359	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564992603	chr4:7956385-7956386	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189173104	chr4:7956422-7956423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7683285	chr4:7956434-7956435	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550764692	chr4:7956470-7956471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193072210	chr4:7956571-7956572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144281640	chr4:7956573-7956574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533265471	chr4:7956579-7956580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141121215	chr4:7956580-7956581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115880924	chr4:7956583-7956584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77117960	chr4:7956585-7956586	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116446769	chr4:7956597-7956598	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190623166	chr4:7956607-7956608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376345573	chr4:7956622-7956623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573924876	chr4:7956623-7956624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538072268	chr4:7956680-7956681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367645742	chr4:7956697-7956698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139099602	chr4:7956698-7956699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7945400-7957400	Weak transcription	Placenta	Placenta
2	chr4:7951400-7962200	Weak transcription	Small Intestine	intestine
3	chr4:7951600-7956200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:7952000-7957000	Weak transcription	Fetal Heart	heart
5	chr4:7952000-7958000	Weak transcription	Stomach Mucosa	stomach
6	chr4:7956200-7956400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr4:7956400-7958000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:7956600-7958000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:7957000-7958600	Enhancers	HMEC	breast
10	chr4:7957000-7958800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7957000-7958800	Enhancers	Fetal Heart	heart
12	chr4:7957000-7959600	Enhancers	Fetal Intestine Small	intestine
13	chr4:7957000-7962000	Enhancers	Hela-S3	cervix
14	chr4:7957200-7958200	Enhancers	HepG2	liver
15	chr4:7957200-7958400	Enhancers	HUVEC	blood vessel
16	chr4:7957200-7958600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:7957200-7958600	Enhancers	Brain Substantia Nigra	brain
18	chr4:7957200-7958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:7957200-7961200	Enhancers	Fetal Intestine Large	intestine
20	chr4:7957400-7958600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:7957400-7958600	Enhancers	NHEK	skin
22	chr4:7957400-7958600	Enhancers	Osteobl	bone
23	chr4:7957400-7959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:7957400-7959400	Enhancers	Placenta	Placenta
25	chr4:7957600-7958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:7957600-7958600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:7957600-7959000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:7957600-7959400	Enhancers	Fetal Muscle Leg	muscle
29	chr4:7957800-7958600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:7957800-7958600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:7957800-7959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7957800-7959000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:7957800-7959400	Enhancers	Fetal Muscle Trunk	muscle
34	chr4:7957800-7960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:7958000-7958200	Enhancers	Stomach Mucosa	stomach
36	chr4:7958000-7958400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:7958000-7958400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:7958000-7958400	Enhancers	HSMM	muscle
39	chr4:7958000-7958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:7958000-7958600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:7958000-7958600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:7958000-7958600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:7958000-7958600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:7958000-7958600	Enhancers	Brain Angular Gyrus	brain
45	chr4:7958000-7958600	Enhancers	Brain Anterior Caudate	brain
46	chr4:7958000-7958600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr4:7958000-7958600	Enhancers	Left Ventricle	heart
48	chr4:7958000-7958600	Enhancers	Lung	lung
49	chr4:7958000-7958600	Enhancers	Pancreas	Pancrea
50	chr4:7958000-7958600	Enhancers	Spleen	Spleen

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