Variant report

Variant	nsv615211
Chromosome Location	chr9:115891009-115905850
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:13262562..13265292-chr9:115900215..115901888,2	MCF-7	breast:
2	chr9:115882399..115884999-chr9:115891613..115894561,3	MCF-7	breast:
3	chr9:115890546..115893506-chr9:115895057..115896950,2	K562	blood:
4	chr9:115900227..115901850-chr9:115926488..115929015,2	MCF-7	breast:
5	chr9:115880293..115882518-chr9:115890659..115892988,2	K562	blood:
6	chr9:115893647..115895768-chr9:115898797..115900868,2	K562	blood:
7	chr9:115890845..115895225-chr9:115895362..115900277,5	MCF-7	breast:
8	chr9:115905644..115908349-chr9:115914691..115916468,2	K562	blood:
9	chr9:115904438..115911145-chr9:115911174..115916685,7	K562	blood:
10	chr9:115888448..115891950-chr9:115898465..115901029,3	MCF-7	breast:
11	chr9:115898948..115900526-chr9:115901136..115903192,2	K562	blood:
12	chr9:115892442..115895400-chr9:115904212..115906056,3	MCF-7	breast:
13	chr9:115899892..115901950-chr9:115925051..115926804,2	MCF-7	breast:
14	chr9:115888448..115891950-chr9:115898465..115901029,3	MCF-7	breast:
15	chr9:115898948..115900526-chr9:115901136..115903192,2	K562	blood:
16	chr9:115893647..115895768-chr9:115898797..115900868,2	K562	blood:
17	chr9:115888226..115890685-chr9:115891498..115893833,2	MCF-7	breast:
18	chr9:115884518..115887843-chr9:115899953..115901831,3	MCF-7	breast:
19	chr9:115890845..115895225-chr9:115895362..115900277,5	MCF-7	breast:
20	chr9:115890878..115893257-chr9:115912029..115915211,3	MCF-7	breast:
21	chr9:115904166..115905985-chr9:115907508..115909495,2	K562	blood:
22	chr9:115886679..115889181-chr9:115895702..115897217,2	MCF-7	breast:
23	chr9:115890546..115893506-chr9:115895057..115896950,2	K562	blood:
24	chr9:115892442..115895400-chr9:115904212..115906056,3	MCF-7	breast:
25	chr9:115886125..115889063-chr9:115896987..115899858,2	K562	blood:
26	chr9:115873480..115874076-chr9:115899935..115900570,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267598	chromatin interactions
ENSG00000225684	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000136867	chromatin interactions

Extended variants
information (count: 620 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10981636	chr9:115891009-115891010	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7027434	chr9:115891031-115891032	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12237814	chr9:115891051-115891052	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185458537	chr9:115891061-115891062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10817444	chr9:115891068-115891069	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570718522	chr9:115891109-115891110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539443447	chr9:115891121-115891122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143875471	chr9:115891125-115891126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556104423	chr9:115891130-115891131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375565911	chr9:115891155-115891156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535572114	chr9:115891165-115891166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555149814	chr9:115891166-115891167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541706573	chr9:115891188-115891189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572624957	chr9:115891207-115891208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146789224	chr9:115891208-115891209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559527432	chr9:115891226-115891227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373994667	chr9:115891298-115891299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139995526	chr9:115891308-115891309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191945353	chr9:115891333-115891334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140551332	chr9:115891341-115891342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144200155	chr9:115891393-115891394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375274854	chr9:115891476-115891477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184237694	chr9:115891510-115891511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117613399	chr9:115891525-115891526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529248748	chr9:115891536-115891537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145269260	chr9:115891550-115891551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373244411	chr9:115891570-115891571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186548244	chr9:115891587-115891588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191916626	chr9:115891588-115891589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573742593	chr9:115891591-115891592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549231892	chr9:115891644-115891645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570658021	chr9:115891670-115891671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140501182	chr9:115891671-115891672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200464597	chr9:115891675-115891676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4571793	chr9:115891728-115891729	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4322081	chr9:115891733-115891734	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535080352	chr9:115891743-115891744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369356914	chr9:115891787-115891788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555458235	chr9:115891793-115891794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571413463	chr9:115891796-115891797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149160449	chr9:115891814-115891815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs578020635	chr9:115891820-115891821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557968315	chr9:115891984-115891985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545510014	chr9:115891997-115891998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114095468	chr9:115892027-115892028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543733103	chr9:115892044-115892045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4979213	chr9:115892058-115892059	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377381825	chr9:115892073-115892074	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7031790	chr9:115892128-115892129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559800807	chr9:115892142-115892143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115884200-115892200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:115892000-115892600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:115892000-115893200	Enhancers	Placenta	Placenta
4	chr9:115892000-115894800	Enhancers	Brain Hippocampus Middle	brain
5	chr9:115892200-115894800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:115892800-115893000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:115892800-115893200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:115892800-115894800	Enhancers	Brain Substantia Nigra	brain
9	chr9:115893000-115894800	Enhancers	Brain Angular Gyrus	brain
10	chr9:115893000-115894800	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:115893000-115895000	Enhancers	Brain Anterior Caudate	brain
12	chr9:115893200-115893600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:115893200-115893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:115893200-115897400	Weak transcription	Placenta	Placenta
15	chr9:115893600-115894400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:115893600-115894800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:115893800-115894000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
18	chr9:115893800-115894600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:115893800-115894800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:115894000-115894200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr9:115894000-115894600	Enhancers	Right Ventricle	heart
22	chr9:115894000-115894800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:115894000-115894800	Enhancers	Fetal Heart	heart
24	chr9:115894400-115894600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:115894800-115896000	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:115894800-115896200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:115894800-115896400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:115894800-115896400	Weak transcription	Brain Substantia Nigra	brain
29	chr9:115894800-115899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:115894800-115900000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:115895000-115896000	Weak transcription	Brain Anterior Caudate	brain
32	chr9:115896000-115896600	Enhancers	Brain Hippocampus Middle	brain
33	chr9:115896000-115897000	Enhancers	Brain Anterior Caudate	brain
34	chr9:115896200-115896800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr9:115896400-115897400	Enhancers	Brain Substantia Nigra	brain
36	chr9:115896400-115897600	Enhancers	Brain Cingulate Gyrus	brain
37	chr9:115896600-115897400	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:115896800-115897200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:115897000-115899000	Weak transcription	Brain Anterior Caudate	brain
40	chr9:115897200-115897400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:115897400-115898400	Weak transcription	Brain Substantia Nigra	brain
42	chr9:115897400-115898800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:115897400-115902800	Enhancers	Brain Hippocampus Middle	brain
44	chr9:115897400-115903000	Enhancers	Placenta	Placenta
45	chr9:115897600-115898200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:115898200-115904200	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:115898400-115903600	Enhancers	Brain Substantia Nigra	brain
48	chr9:115898800-115899000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr9:115898800-115901000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr9:115898800-115901800	Enhancers	Brain Inferior Temporal Lobe	brain

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