Variant report

Variant	nsv1041382
Chromosome Location	chr15:87652845-87677194
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:87616838..87619677-chr15:87654360..87656187,2	MCF-7	breast:
2	chr15:87666031..87668174-chr15:87674235..87675823,2	MCF-7	breast:
3	chr15:87666031..87668174-chr15:87674235..87675823,2	MCF-7	breast:
4	chr15:87664612..87666658-chr15:87671370..87673552,2	MCF-7	breast:
5	chr15:87662307..87663890-chr15:87676905..87678767,2	MCF-7	breast:
6	chr15:87588638..87589626-chr15:87664512..87665513,3	MCF-7	breast:
7	chr15:87662307..87663890-chr15:87676905..87678767,2	MCF-7	breast:
8	chr15:87664612..87666658-chr15:87671370..87673552,2	MCF-7	breast:

No data

Extended variants
information (count: 653 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559612865	chr15:87657432-87657433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533398197	chr15:87657435-87657436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150397096	chr15:87657444-87657445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138371085	chr15:87657459-87657460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531455439	chr15:87657468-87657469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549867438	chr15:87657485-87657486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142845691	chr15:87657554-87657555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146003254	chr15:87657623-87657624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547760486	chr15:87657627-87657628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6496400	chr15:87657681-87657682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78203482	chr15:87657683-87657684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557913872	chr15:87657699-87657700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138635371	chr15:87657700-87657701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562943590	chr15:87657701-87657702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537570086	chr15:87657708-87657709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562154925	chr15:87657736-87657737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371143278	chr15:87657772-87657773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76494552	chr15:87657778-87657779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74026001	chr15:87657784-87657785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76484849	chr15:87660808-87660809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141276225	chr15:87660816-87660817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs41437947	chr15:87660865-87660866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150765266	chr15:87660890-87660891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2133569	chr15:87660921-87660922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535878758	chr15:87660939-87660940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554159299	chr15:87660995-87660996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138111836	chr15:87661003-87661004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79391084	chr15:87661032-87661033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558773860	chr15:87661043-87661044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13379903	chr15:87661046-87661047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2133570	chr15:87661062-87661063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs562996206	chr15:87661078-87661079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2133571	chr15:87661080-87661081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs113573885	chr15:87661103-87661104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183390865	chr15:87661119-87661120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149533696	chr15:87661129-87661130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527646783	chr15:87661191-87661192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187253496	chr15:87661193-87661194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571121844	chr15:87661216-87661217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531839603	chr15:87661217-87661218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147142422	chr15:87661250-87661251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548627020	chr15:87661270-87661271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533143506	chr15:87661276-87661277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191288924	chr15:87661305-87661306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183833420	chr15:87661319-87661320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527691033	chr15:87661346-87661347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566352192	chr15:87661369-87661370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533770762	chr15:87661380-87661381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558623745	chr15:87661435-87661436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200231432	chr15:87661440-87661441	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	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
Colorectal cancer	16774939	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87657400-87657800	Enhancers	Esophagus	oesophagus
2	chr15:87660800-87662000	Enhancers	Brain Substantia Nigra	brain
3	chr15:87661000-87661600	Enhancers	Stomach Smooth Muscle	stomach
4	chr15:87661000-87662200	Enhancers	Fetal Brain Male	brain
5	chr15:87661400-87661800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:87661400-87662400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr15:87661600-87662000	Enhancers	Fetal Stomach	stomach
8	chr15:87661600-87662200	Enhancers	Brain Angular Gyrus	brain
9	chr15:87661800-87662400	Enhancers	Fetal Muscle Leg	muscle
10	chr15:87662000-87662400	Enhancers	Brain Hippocampus Middle	brain
11	chr15:87662000-87663200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:87662200-87662600	Weak transcription	Fetal Brain Male	brain
13	chr15:87662400-87663200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:87662600-87663200	Enhancers	Fetal Brain Male	brain
15	chr15:87663200-87663400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr15:87663200-87663400	Enhancers	Brain Substantia Nigra	brain
17	chr15:87663800-87664200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr15:87665600-87667800	Enhancers	Brain Germinal Matrix	brain
19	chr15:87667800-87684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:87673000-87673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:87673200-87673800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:87673200-87673800	Enhancers	HMEC	breast

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