Variant report

Variant	esv3419951
Chromosome Location	chr15:31157739-31165597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 277 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2177670	chr15:31157751-31157752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140346118	chr15:31157767-31157768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575849577	chr15:31157831-31157832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569206661	chr15:31157836-31157837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538345913	chr15:31157899-31157900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34683827	chr15:31157921-31157922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368185344	chr15:31157939-31157940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577935330	chr15:31158024-31158025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147464644	chr15:31158087-31158088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554093202	chr15:31158101-31158102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139608287	chr15:31158111-31158112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542257773	chr15:31158112-31158113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545577878	chr15:31158143-31158144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190584194	chr15:31158178-31158179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576015728	chr15:31158179-31158180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545109074	chr15:31158181-31158182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180993467	chr15:31158213-31158214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377091238	chr15:31158222-31158223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533331317	chr15:31158229-31158230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62000185	chr15:31158259-31158260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546828986	chr15:31158294-31158295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560410515	chr15:31158324-31158325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529594501	chr15:31158346-31158347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186035437	chr15:31158380-31158381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149749721	chr15:31158438-31158439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537926510	chr15:31158440-31158441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187979445	chr15:31158495-31158496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571804410	chr15:31158505-31158506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533966385	chr15:31158574-31158575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554058457	chr15:31158623-31158624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74856007	chr15:31158635-31158636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528260279	chr15:31158660-31158661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546901976	chr15:31158732-31158733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569544640	chr15:31158735-31158736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536559197	chr15:31158750-31158751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561978166	chr15:31158785-31158786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59938368	chr15:31158813-31158814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181204471	chr15:31158901-31158902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575968889	chr15:31158912-31158913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544637091	chr15:31158937-31158938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185349152	chr15:31158953-31158954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571852998	chr15:31158961-31158962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540380494	chr15:31158969-31158970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75424287	chr15:31158975-31158976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190555105	chr15:31158976-31158977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148456755	chr15:31158993-31158994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563068843	chr15:31159066-31159067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529159064	chr15:31159073-31159074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531716992	chr15:31159111-31159112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117530021	chr15:31159117-31159118	Weak transcription	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31127000-31157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:31127200-31170000	Weak transcription	Pancreas	Pancrea
3	chr15:31132800-31195600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:31152600-31163600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:31156800-31158200	Enhancers	HepG2	liver
6	chr15:31157200-31163400	Weak transcription	Dnd41	blood
7	chr15:31157400-31158200	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:31157400-31158200	Enhancers	Stomach Mucosa	stomach
9	chr15:31157400-31177600	Weak transcription	Spleen	Spleen
10	chr15:31157800-31159000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:31158200-31161600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:31159000-31173800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:31161600-31163600	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:31162400-31163800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:31163200-31163800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:31163200-31163800	Enhancers	Gastric	stomach
17	chr15:31163200-31165200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:31163400-31163600	Enhancers	Psoas Muscle	Psoas
19	chr15:31163400-31164000	Strong transcription	Dnd41	blood
20	chr15:31163400-31165400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:31163600-31163800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:31163800-31164200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:31163800-31164800	Weak transcription	Psoas Muscle	Psoas
24	chr15:31164000-31167600	Weak transcription	Dnd41	blood
25	chr15:31164200-31165000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:31164600-31165000	Enhancers	NHDF-Ad	bronchial
27	chr15:31164600-31165200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:31164600-31165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:31164800-31165400	Enhancers	Psoas Muscle	Psoas

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