Variant report

Variant	nsv273692
Chromosome Location	chr4:10183315-10183318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10116716..10122622-chr4:10178049..10187480,27	K562	blood:
2	chr4:10180991..10184001-chr4:10327240..10329402,3	K562	blood:
3	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
4	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
5	chr4:10181898..10186356-chr4:10317430..10320755,4	K562	blood:
6	chr4:10182154..10184410-chr4:10456824..10459646,5	K562	blood:
7	chr4:10181386..10184366-chr4:10364568..10366943,2	K562	blood:
8	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
9	chr4:10182377..10185038-chr4:10453503..10456156,2	K562	blood:
10	chr4:10112946..10115430-chr4:10181535..10185097,4	K562	blood:
11	chr4:10182435..10184114-chr4:10441654..10444481,2	K562	blood:
12	chr4:10182494..10184635-chr4:10284696..10287291,2	K562	blood:
13	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
14	chr4:10182073..10186416-chr4:10457121..10461088,7	K562	blood:
15	chr4:10182377..10184143-chr4:10453503..10455042,2	K562	blood:
16	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
17	chr4:10182452..10185153-chr4:10405566..10407454,2	K562	blood:
18	chr4:10182494..10184107-chr4:10284696..10287149,2	K562	blood:
19	chr4:10181502..10184182-chr4:38665329..38667544,2	K562	blood:
20	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
21	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
22	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196355	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000178163	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000231160	chromatin interactions
ENSG00000109787	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34682160	chr4:10183315-10183316	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs75110220	chr4:10183317-10183318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs398106977	chr4:10183318-10183319	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10175200-10189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:10176200-10183600	Weak transcription	Right Atrium	heart
3	chr4:10177800-10186400	Weak transcription	Right Ventricle	heart
4	chr4:10181200-10186800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:10181200-10189000	Enhancers	HSMM	muscle
6	chr4:10181400-10183800	Enhancers	HSMMtube	muscle
7	chr4:10181400-10186600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:10181600-10184000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:10181600-10184000	Enhancers	Osteobl	bone
10	chr4:10181600-10185000	Enhancers	NHDF-Ad	bronchial
11	chr4:10181600-10186400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:10181800-10183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:10181800-10184000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:10181800-10184000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:10182200-10183800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr4:10182200-10183800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:10182200-10184000	Enhancers	HMEC	breast
18	chr4:10182200-10184000	Enhancers	HUVEC	blood vessel
19	chr4:10182200-10184000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr4:10182200-10186400	Weak transcription	Fetal Heart	heart
21	chr4:10182400-10183400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:10182400-10183400	Enhancers	NHLF	lung
23	chr4:10182400-10184000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:10182400-10184000	Enhancers	NHEK	skin
25	chr4:10182400-10185200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:10182600-10183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:10182600-10183400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:10182600-10183600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:10182600-10183800	Enhancers	Placenta	Placenta
30	chr4:10182600-10184000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:10182600-10184000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:10182600-10184000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:10182600-10186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:10182800-10187400	Weak transcription	Left Ventricle	heart
35	chr4:10183200-10183400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:10183200-10184000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:10183200-10184000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:10183200-10184000	Flanking Active TSS	K562	blood
39	chr4:10183200-10184200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:10183200-10184400	Weak transcription	Primary T cells from cord blood	blood
41	chr4:10183200-10184400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:10183200-10184600	Enhancers	Primary B cells from cord blood	blood
43	chr4:10183200-10184600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:10183200-10185000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:10183200-10185000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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