Variant report

Variant	nsv1042176
Chromosome Location	chr15:92294930-92329264
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:92322667..92324902-chr15:92326393..92328301,2	MCF-7	breast:
2	chr15:92317172..92319583-chr15:92349701..92351501,2	MCF-7	breast:
3	chr15:92302171..92305609-chr15:92307741..92311230,3	K562	blood:
4	chr15:92322667..92324902-chr15:92326393..92328301,2	MCF-7	breast:
5	chr15:92302171..92305609-chr15:92307741..92311230,3	K562	blood:
6	chr15:92295136..92297789-chr15:92298612..92301622,3	K562	blood:
7	chr15:92295136..92297789-chr15:92298612..92301622,3	K562	blood:
8	chr15:92296303..92299066-chr15:92303858..92305749,2	MCF-7	breast:
9	chr15:92296303..92299066-chr15:92303858..92305749,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO3A1-4	chr15:92317693-92318165	ucscGeneNc_uc002btf_1
2	lnc-SLCO3A1-4	chr15:92313827-92313928	ucscGeneNc_uc002btf_1

No data

Extended variants
information (count: 1393 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539469467	chr15:92294945-92294946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556218945	chr15:92294978-92294979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535226167	chr15:92294981-92294982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576172943	chr15:92294994-92294995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541956556	chr15:92295055-92295056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374795673	chr15:92295072-92295073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150782788	chr15:92295123-92295124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541308417	chr15:92295148-92295149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564257492	chr15:92295178-92295179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572565837	chr15:92295187-92295188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112191565	chr15:92295188-92295189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536400310	chr15:92295192-92295193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373746482	chr15:92295193-92295194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112424301	chr15:92295214-92295215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369005479	chr15:92295222-92295223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533336370	chr15:92295229-92295230	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554985205	chr15:92295241-92295242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113188857	chr15:92295263-92295264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138028314	chr15:92295276-92295277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372406393	chr15:92295289-92295290	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188626788	chr15:92295295-92295296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149491983	chr15:92295297-92295298	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4130067	chr15:92295314-92295315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112176589	chr15:92295323-92295324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534942907	chr15:92295334-92295335	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552032584	chr15:92295336-92295337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192578404	chr15:92295368-92295369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs184792597	chr15:92295369-92295370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556155557	chr15:92295372-92295373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs8024457	chr15:92295386-92295387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566475027	chr15:92295410-92295411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535541660	chr15:92295423-92295424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555212994	chr15:92295430-92295431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572188779	chr15:92295433-92295434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540896874	chr15:92295510-92295511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557952698	chr15:92295511-92295512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577480039	chr15:92295520-92295521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373753322	chr15:92295527-92295528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543319748	chr15:92295532-92295533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563294969	chr15:92295537-92295538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186601563	chr15:92295572-92295573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191448417	chr15:92295573-92295574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143962221	chr15:92295639-92295640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528610459	chr15:92295657-92295658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139846251	chr15:92295668-92295669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369339166	chr15:92295692-92295693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541704452	chr15:92295705-92295706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571821773	chr15:92295710-92295711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531184912	chr15:92295712-92295713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551342943	chr15:92295726-92295727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	17989066	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92293400-92295600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:92293400-92296200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr15:92293600-92295200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr15:92293800-92295200	Enhancers	Pancreas	Pancrea
5	chr15:92294400-92295200	Enhancers	Brain Anterior Caudate	brain
6	chr15:92294400-92295800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:92294400-92296000	Enhancers	Brain Angular Gyrus	brain
8	chr15:92294400-92296200	Enhancers	Brain Cingulate Gyrus	brain
9	chr15:92294400-92296200	Enhancers	Brain Substantia Nigra	brain
10	chr15:92294400-92297400	Enhancers	Brain Hippocampus Middle	brain
11	chr15:92295000-92295400	Enhancers	Fetal Brain Male	brain
12	chr15:92295000-92295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:92295000-92295800	Enhancers	Lung	lung
14	chr15:92295000-92296000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:92295000-92296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:92295000-92296200	Enhancers	Fetal Lung	lung
17	chr15:92295000-92297200	Enhancers	Ovary	ovary
18	chr15:92295200-92295400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:92295200-92295400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr15:92295200-92295400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:92295200-92295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:92295200-92295800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:92295400-92295600	Enhancers	Brain Anterior Caudate	brain
24	chr15:92295400-92295600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr15:92295400-92308400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:92295600-92295800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:92295600-92296000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr15:92295800-92296000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr15:92295800-92296200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr15:92296000-92297200	Enhancers	Brain Anterior Caudate	brain
31	chr15:92296000-92299800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:92296000-92302800	Weak transcription	Brain Angular Gyrus	brain
33	chr15:92296200-92297200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:92296200-92297200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:92297200-92297400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr15:92297200-92297800	Enhancers	Brain Cingulate Gyrus	brain
37	chr15:92302800-92303000	Enhancers	Brain Angular Gyrus	brain
38	chr15:92303000-92306200	Weak transcription	Brain Angular Gyrus	brain
39	chr15:92304000-92304400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:92304400-92304600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:92304800-92309600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:92307000-92307600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:92307200-92308400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr15:92307200-92308600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:92307200-92308600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:92307200-92308600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:92307200-92308800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr15:92307200-92308800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr15:92307400-92307600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr15:92307400-92308200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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