Variant report

Variant	nsv593546
Chromosome Location	chr4:6899678-6900498
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	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:

Variant related genes	Relation type
ENSG00000132405	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532554526	chr4:6899869-6899870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200305203	chr4:6899885-6899886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541613558	chr4:6899887-6899888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533643074	chr4:6899923-6899924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555190432	chr4:6899954-6899955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376395781	chr4:6899963-6899964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201242994	chr4:6900012-6900013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199758818	chr4:6900035-6900036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530316453	chr4:6900036-6900037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200453582	chr4:6900056-6900057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375193300	chr4:6900128-6900129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376635381	chr4:6900147-6900148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566896217	chr4:6900162-6900163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111857893	chr4:6900164-6900165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112056925	chr4:6900190-6900191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369981114	chr4:6900203-6900204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56313104	chr4:6900206-6900207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531223803	chr4:6900253-6900254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549426091	chr4:6900256-6900257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184523363	chr4:6900267-6900268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571322555	chr4:6900283-6900284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189488661	chr4:6900292-6900293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56400658	chr4:6900312-6900313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs55910032	chr4:6900314-6900315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56288401	chr4:6900334-6900335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56030927	chr4:6900374-6900375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372374194	chr4:6900378-6900379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374498325	chr4:6900379-6900380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56010832	chr4:6900381-6900382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367782199	chr4:6900398-6900399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113567759	chr4:6900449-6900450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185381770	chr4:6900487-6900488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575549597	chr4:6900488-6900489	Weak transcription Enhancers	n/a	n/a	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6894400-6900600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:6894600-6903000	Weak transcription	HSMM	muscle
3	chr4:6894600-6903600	Weak transcription	Right Atrium	heart
4	chr4:6894800-6900600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:6894800-6900600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:6895400-6900600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:6895400-6900600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:6895400-6900600	Weak transcription	Fetal Thymus	thymus
9	chr4:6895400-6900600	Weak transcription	GM12878-XiMat	blood
10	chr4:6895400-6900800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:6895600-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:6895800-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:6895800-6901800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:6896400-6900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:6896400-6900600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:6896400-6900800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:6896800-6900600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:6896800-6906200	Weak transcription	Liver	Liver
19	chr4:6896800-6909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:6897000-6900600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:6897000-6900600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:6897200-6900600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:6897200-6900600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:6897400-6900400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:6898000-6909600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:6898400-6902200	Weak transcription	K562	blood
27	chr4:6899400-6900600	Weak transcription	HepG2	liver
28	chr4:6899600-6903200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:6900400-6903200	Enhancers	Primary T cells fromperipheralblood	blood

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