Variant report

Variant	nsv984044
Chromosome Location	chr15:31114428-31126547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31120296..31121046-chr17:8075920..8076839,2	HCT-116	colon:

Extended variants
information (count: 519 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555346762	chr15:31114469-31114470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188404488	chr15:31114488-31114489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72725298	chr15:31114489-31114490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184768887	chr15:31114493-31114494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368144394	chr15:31114520-31114521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371984137	chr15:31114601-31114602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544044964	chr15:31114613-31114614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562424564	chr15:31114624-31114625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527938970	chr15:31114625-31114626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189182897	chr15:31114689-31114690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577445319	chr15:31114701-31114702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370665835	chr15:31114712-31114713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540125221	chr15:31114730-31114731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560023784	chr15:31114751-31114752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34181825	chr15:31114787-31114788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573508131	chr15:31114801-31114802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542627632	chr15:31114808-31114809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562408271	chr15:31114815-31114816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191416448	chr15:31114817-31114818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551528319	chr15:31114854-31114855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11854694	chr15:31114885-31114886	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533608211	chr15:31114887-31114888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200983741	chr15:31114912-31114913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545243178	chr15:31114953-31114954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567157643	chr15:31114954-31114955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147132063	chr15:31114960-31114961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201721392	chr15:31114980-31114981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184228296	chr15:31114981-31114982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190027341	chr15:31114996-31114997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537928301	chr15:31115027-31115028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181247844	chr15:31115096-31115097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577374449	chr15:31115100-31115101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533739530	chr15:31115211-31115212	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113017960	chr15:31115218-31115219	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs118003214	chr15:31115226-31115227	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527591839	chr15:31115271-31115272	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573893146	chr15:31115278-31115279	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184723392	chr15:31115335-31115336	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189084842	chr15:31115372-31115373	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181514133	chr15:31115440-31115441	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545116359	chr15:31115532-31115533	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375461418	chr15:31115545-31115546	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs798121	chr15:31115555-31115556	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs533520164	chr15:31115575-31115576	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs798122	chr15:31115578-31115579	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs186494773	chr15:31115589-31115590	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529578249	chr15:31115627-31115628	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2240101	chr15:31115709-31115710	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs569233751	chr15:31115719-31115720	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2339039	chr15:31115726-31115727	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31110200-31118200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31114000-31115000	Enhancers	Fetal Brain Male	brain
3	chr15:31114400-31125000	Weak transcription	Pancreas	Pancrea
4	chr15:31114600-31114800	Enhancers	Fetal Brain Female	brain
5	chr15:31114800-31115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:31114800-31115800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:31114800-31115800	Weak transcription	Fetal Brain Female	brain
8	chr15:31115000-31115200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:31115000-31115200	Enhancers	Dnd41	blood
10	chr15:31115000-31115800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr15:31115000-31115800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:31115000-31116200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:31115000-31116200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr15:31115200-31115400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:31115200-31115600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr15:31115200-31115600	Flanking Active TSS	Dnd41	blood
17	chr15:31115200-31116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:31115200-31116200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr15:31115400-31115600	Enhancers	Primary T cells from cord blood	blood
20	chr15:31115400-31115800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:31115400-31116000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:31115600-31115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:31115600-31116000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:31115600-31116400	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr15:31115600-31116600	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr15:31115600-31116600	Active TSS	Dnd41	blood
27	chr15:31115600-31116800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:31115600-31116800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr15:31115800-31116000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:31115800-31116000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr15:31115800-31116000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:31115800-31116200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr15:31115800-31116200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:31115800-31116200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:31115800-31116200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:31115800-31116200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr15:31115800-31116200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:31115800-31116200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr15:31115800-31116200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:31115800-31116200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:31115800-31116200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:31115800-31116200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:31115800-31116200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:31115800-31116200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:31115800-31116200	Active TSS	Adipose Nuclei	Adipose
46	chr15:31115800-31116200	Active TSS	Brain Anterior Caudate	brain
47	chr15:31115800-31116200	Active TSS	Brain Cingulate Gyrus	brain
48	chr15:31115800-31116200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:31115800-31116200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:31115800-31116200	Active TSS	Duodenum Mucosa	Duodenum

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