Variant report

Variant	nsv966250
Chromosome Location	chr4:3883006-3883506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3766377..3769370-chr4:3879934..3883138,3	K562	blood:
2	chr4:3867932..3870824-chr4:3880494..3883548,4	K562	blood:
3	chr4:3875544..3878977-chr4:3880853..3884345,4	MCF-7	breast:
4	chr4:3867255..3869432-chr4:3880872..3883548,2	K562	blood:

Variant related genes	Relation type
ENSG00000184160	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28678310	chr4:3883022-3883023	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532075626	chr4:3883028-3883029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs33956964	chr4:3883031-3883032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78358489	chr4:3883038-3883039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185878936	chr4:3883053-3883054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79749940	chr4:3883057-3883058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562273738	chr4:3883112-3883113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139094390	chr4:3883121-3883122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149929712	chr4:3883129-3883130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568621476	chr4:3883190-3883191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144079120	chr4:3883192-3883193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537628014	chr4:3883215-3883216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547639511	chr4:3883245-3883246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201322161	chr4:3883260-3883261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571006362	chr4:3883264-3883265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540065316	chr4:3883277-3883278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556691523	chr4:3883288-3883289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148685798	chr4:3883309-3883310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199708282	chr4:3883320-3883321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374614286	chr4:3883321-3883322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200757835	chr4:3883333-3883334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574618784	chr4:3883338-3883339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556349542	chr4:3883371-3883372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73792789	chr4:3883378-3883379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150516891	chr4:3883388-3883389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200184112	chr4:3883414-3883415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201045309	chr4:3883415-3883416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144627650	chr4:3883419-3883420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151262599	chr4:3883422-3883423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191190622	chr4:3883452-3883453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3882800-3884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:3882800-3884400	Weak transcription	Right Atrium	heart

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