Variant report

Variant	esv3424696
Chromosome Location	chr15:31801985-31805258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4779538	chr15:31801993-31801994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555878149	chr15:31802012-31802013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552700455	chr15:31802013-31802014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8039680	chr15:31802069-31802070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4779539	chr15:31802076-31802077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554889014	chr15:31802103-31802104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112193858	chr15:31802119-31802120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559602469	chr15:31802120-31802121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397969430	chr15:31802128-31802129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200196473	chr15:31802149-31802150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150653843	chr15:31802158-31802159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543640151	chr15:31802220-31802221	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557392905	chr15:31802245-31802246	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577288380	chr15:31802266-31802267	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546130805	chr15:31802283-31802284	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577957742	chr15:31802286-31802287	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559496678	chr15:31802299-31802300	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554796817	chr15:31802352-31802353	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12441163	chr15:31802360-31802361	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181885323	chr15:31802375-31802376	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561998565	chr15:31802376-31802377	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530689775	chr15:31802395-31802396	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550819115	chr15:31802446-31802447	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs570482991	chr15:31802461-31802462	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs532896534	chr15:31802475-31802476	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs59405466	chr15:31802557-31802558	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374850457	chr15:31802610-31802611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79587914	chr15:31802611-31802612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535106966	chr15:31802644-31802645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368111901	chr15:31802675-31802676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141957620	chr15:31802710-31802711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200849637	chr15:31802711-31802712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146020950	chr15:31802714-31802715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186457925	chr15:31802718-31802719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563544183	chr15:31802733-31802734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531396819	chr15:31802739-31802740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577226860	chr15:31802743-31802744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549626935	chr15:31802747-31802748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374634048	chr15:31802763-31802764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62004092	chr15:31802764-31802765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545970317	chr15:31802779-31802780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371739641	chr15:31802788-31802789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79518052	chr15:31802789-31802790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62637726	chr15:31802814-31802815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62637727	chr15:31802839-31802840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561699722	chr15:31802859-31802860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74196609	chr15:31802864-31802865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71474665	chr15:31802889-31802890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368603408	chr15:31802963-31802964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191305353	chr15:31802989-31802990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Angelman syndrome	16183798	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
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
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31782400-31821000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:31787200-31810800	Weak transcription	Pancreas	Pancrea
3	chr15:31795600-31802200	Weak transcription	Fetal Brain Female	brain
4	chr15:31796000-31802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:31796200-31802400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:31796200-31802400	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:31796200-31802400	Weak transcription	Brain Substantia Nigra	brain
8	chr15:31796400-31802400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:31796400-31802400	Weak transcription	Brain Angular Gyrus	brain
10	chr15:31796800-31802200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:31797000-31814200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:31801600-31802600	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:31802000-31802200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr15:31802200-31802400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:31802200-31802400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr15:31802200-31802400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:31802200-31802400	Active TSS	Fetal Brain Female	brain
18	chr15:31802200-31802400	Active TSS	Psoas Muscle	Psoas
19	chr15:31802200-31802600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr15:31802200-31802600	Enhancers	Fetal Brain Male	brain
21	chr15:31802200-31802600	Enhancers	Fetal Muscle Leg	muscle
22	chr15:31802200-31802600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr15:31802400-31802600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:31802400-31802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:31802400-31802600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:31802400-31802600	Enhancers	Brain Angular Gyrus	brain
27	chr15:31802400-31802600	Enhancers	Brain Anterior Caudate	brain
28	chr15:31802400-31802600	Enhancers	Brain Hippocampus Middle	brain
29	chr15:31802400-31802600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:31802400-31802600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:31802400-31802600	Enhancers	Brain Substantia Nigra	brain
32	chr15:31802400-31802600	Flanking Active TSS	Fetal Brain Female	brain
33	chr15:31802400-31802600	Enhancers	Left Ventricle	heart
34	chr15:31802400-31802600	Enhancers	Lung	lung
35	chr15:31802400-31802600	Flanking Active TSS	Psoas Muscle	Psoas
36	chr15:31802400-31802600	Flanking Active TSS	HSMM	muscle
37	chr15:31802400-31802600	Bivalent Enhancer	HSMMtube	muscle
38	chr15:31802600-31802800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:31802600-31804200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:31802600-31804200	Weak transcription	Psoas Muscle	Psoas
41	chr15:31802600-31814200	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:31802600-31814400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:31802600-31814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:31802600-31817000	Weak transcription	Brain Angular Gyrus	brain
45	chr15:31802600-31817000	Weak transcription	Brain Substantia Nigra	brain
46	chr15:31802600-31817200	Weak transcription	Brain Anterior Caudate	brain
47	chr15:31802600-31825200	Weak transcription	Fetal Brain Female	brain
48	chr15:31804000-31804200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:31804000-31804200	Enhancers	GM12878-XiMat	blood
50	chr15:31804000-31804600	Enhancers	Primary B cells from peripheral blood	blood

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