Variant report

Variant	nsv524838
Chromosome Location	chr4:7535574-7537029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:
2	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:
3	chr4:7535311..7535864-chr4:7556278..7556945,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16840471	chr4:7535574-7535575	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554825592	chr4:7535599-7535600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs11930872	chr4:7535643-7535644	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188325923	chr4:7535658-7535659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531733572	chr4:7535659-7535660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386671249	chr4:7535661-7535662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199962308	chr4:7535662-7535663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547631370	chr4:7535667-7535668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75110746	chr4:7535698-7535699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79936368	chr4:7535704-7535705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560066752	chr4:7535723-7535724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79070548	chr4:7535769-7535770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567051543	chr4:7535771-7535772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554012278	chr4:7535822-7535823	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77447219	chr4:7535827-7535828	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571423517	chr4:7535870-7535871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180835414	chr4:7535885-7535886	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538926289	chr4:7535901-7535902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572431176	chr4:7535909-7535910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185586323	chr4:7535927-7535928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542676093	chr4:7535939-7535940	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553644464	chr4:7535955-7535956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572194756	chr4:7535956-7535957	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147612312	chr4:7535991-7535992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561182411	chr4:7535994-7535995	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191118772	chr4:7536042-7536043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76875593	chr4:7536046-7536047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78399353	chr4:7536049-7536050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201166437	chr4:7536056-7536057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369923585	chr4:7536057-7536058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397881107	chr4:7536064-7536065	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112838907	chr4:7536137-7536138	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565287136	chr4:7536199-7536200	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374304557	chr4:7536204-7536205	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181152985	chr4:7536205-7536206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186764425	chr4:7536216-7536217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191661888	chr4:7536217-7536218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28386951	chr4:7536248-7536249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372280177	chr4:7536299-7536300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66827576	chr4:7536311-7536312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4689137	chr4:7536364-7536365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115671621	chr4:7536424-7536425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571230206	chr4:7536439-7536440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538294597	chr4:7536440-7536441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532655274	chr4:7536445-7536446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183539171	chr4:7536446-7536447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536434310	chr4:7536457-7536458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554817242	chr4:7536465-7536466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs68182039	chr4:7536489-7536490	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537554280	chr4:7536523-7536524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7530800-7535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:7531600-7540800	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:7533000-7536600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:7533400-7535600	Weak transcription	Fetal Stomach	stomach
5	chr4:7533400-7535800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:7533600-7542800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7534400-7536400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7535000-7535600	Enhancers	HepG2	liver
9	chr4:7535400-7535600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7535600-7535800	Strong transcription	Fetal Stomach	stomach
11	chr4:7535600-7536600	Weak transcription	HepG2	liver
12	chr4:7535800-7536400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr4:7535800-7537000	ZNF genes & repeats	Fetal Stomach	stomach
14	chr4:7536400-7536800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7536400-7538200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:7536800-7542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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