Variant report

Variant	esv3404736
Chromosome Location	chr15:31803153-31804038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367922028	chr15:31803153-31803154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199811894	chr15:31803156-31803157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542827523	chr15:31803162-31803163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539746104	chr15:31803176-31803177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537356419	chr15:31803177-31803178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557674703	chr15:31803179-31803180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570935861	chr15:31803180-31803181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540060012	chr15:31803182-31803183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563522309	chr15:31803191-31803192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553158456	chr15:31803198-31803199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201310242	chr15:31803200-31803201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535804866	chr15:31803203-31803204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549579998	chr15:31803212-31803213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575750436	chr15:31803217-31803218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375130342	chr15:31803220-31803221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376674681	chr15:31803221-31803222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200075196	chr15:31803224-31803225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190836991	chr15:31803225-31803226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200995148	chr15:31803230-31803231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571332630	chr15:31803233-31803234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531967839	chr15:31803235-31803236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183350392	chr15:31803242-31803243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374828931	chr15:31803243-31803244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188045679	chr15:31803244-31803245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577744971	chr15:31803247-31803248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192089039	chr15:31803248-31803249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547416689	chr15:31803261-31803262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528958514	chr15:31803265-31803266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200819407	chr15:31803268-31803269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551629522	chr15:31803270-31803271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201473220	chr15:31803271-31803272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185274884	chr15:31803272-31803273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200791232	chr15:31803273-31803274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551560441	chr15:31803279-31803280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562133247	chr15:31803290-31803291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531382747	chr15:31803296-31803297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550977483	chr15:31803315-31803316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571141471	chr15:31803340-31803341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188146367	chr15:31803344-31803345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192734978	chr15:31803369-31803370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184282586	chr15:31803371-31803372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188169421	chr15:31803394-31803395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191470098	chr15:31803396-31803397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111207247	chr15:31803398-31803399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552939261	chr15:31803401-31803402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184674697	chr15:31803419-31803420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369156661	chr15:31803420-31803421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189465499	chr15:31803423-31803424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181753083	chr15:31803425-31803426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186867019	chr15:31803426-31803427	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:26 , 50 per page) page: 1

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	chr15:31797000-31814200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:31802600-31804200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:31802600-31804200	Weak transcription	Psoas Muscle	Psoas
6	chr15:31802600-31814200	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:31802600-31814400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:31802600-31814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:31802600-31817000	Weak transcription	Brain Angular Gyrus	brain
10	chr15:31802600-31817000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:31802600-31817200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:31802600-31825200	Weak transcription	Fetal Brain Female	brain
13	chr15:31804000-31804200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:31804000-31804200	Enhancers	GM12878-XiMat	blood
15	chr15:31804000-31804600	Enhancers	Primary B cells from peripheral blood	blood
16	chr15:31804000-31804800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:31804000-31805000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:31804000-31805000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:31804000-31805000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr15:31804000-31805000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr15:31804000-31805400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr15:31804000-31805400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:31804000-31805600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:31804000-31805800	Enhancers	Primary T cells from cord blood	blood
25	chr15:31804000-31805800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:31804000-31805800	Enhancers	Primary T helper cells fromperipheralblood	blood

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