Variant report

Variant	esv20404
Chromosome Location	chr15:31724141-31725901
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	chr15:31492809..31493388-chr15:31725822..31726811,2	MCF-7	breast:
2	chr15:31723431..31726207-chr15:31734992..31737659,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568032645	chr15:31724146-31724147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138522765	chr15:31724164-31724165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190537710	chr15:31724176-31724177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111561061	chr15:31724177-31724178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147333271	chr15:31724187-31724188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547290792	chr15:31724195-31724196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181759807	chr15:31724214-31724215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536188433	chr15:31724252-31724253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113671594	chr15:31724355-31724356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386382600	chr15:31724356-31724357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200948834	chr15:31724357-31724358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199930433	chr15:31724360-31724361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201034921	chr15:31724361-31724362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202147856	chr15:31724362-31724363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199859155	chr15:31724365-31724366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556413229	chr15:31724398-31724399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539928664	chr15:31724401-31724402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546658931	chr15:31724413-31724414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186878313	chr15:31724415-31724416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538639018	chr15:31724416-31724417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190141068	chr15:31724428-31724429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181331884	chr15:31724431-31724432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373940922	chr15:31724461-31724462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77599412	chr15:31724494-31724495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558039417	chr15:31724511-31724512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560552764	chr15:31724525-31724526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75934361	chr15:31724535-31724536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571652469	chr15:31724582-31724583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549120132	chr15:31724583-31724584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546099865	chr15:31724598-31724599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140916586	chr15:31724631-31724632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35966086	chr15:31724656-31724657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562839377	chr15:31724662-31724663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs66677232	chr15:31724670-31724671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398026748	chr15:31724673-31724674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551371197	chr15:31724678-31724679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564902824	chr15:31724687-31724688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527810076	chr15:31724713-31724714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377055292	chr15:31724722-31724723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77392013	chr15:31724774-31724775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567388812	chr15:31724779-31724780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536443204	chr15:31724788-31724789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113102367	chr15:31724798-31724799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185153819	chr15:31724884-31724885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572813994	chr15:31724890-31724891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531620110	chr15:31724892-31724893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550910420	chr15:31724894-31724895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142630022	chr15:31724895-31724896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538899400	chr15:31724900-31724901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189860577	chr15:31724916-31724917	Weak transcription Enhancers	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31712800-31732800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:31720200-31725600	Weak transcription	NHDF-Ad	bronchial
3	chr15:31722800-31724600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr15:31723200-31725200	Weak transcription	Primary T cells from cord blood	blood
5	chr15:31723400-31724400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr15:31723800-31725200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr15:31723800-31726800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:31724000-31724200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:31724000-31724200	Enhancers	Lung	lung
10	chr15:31724000-31724200	Enhancers	Spleen	Spleen
11	chr15:31724000-31724600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:31724000-31724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:31724000-31726400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:31724000-31726600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:31724000-31727000	Enhancers	Fetal Thymus	thymus
16	chr15:31724200-31724400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:31724200-31724400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:31724200-31726800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:31724400-31724600	Enhancers	Primary B cells from cord blood	blood
20	chr15:31724400-31724600	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:31724400-31725400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:31724400-31725400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:31724400-31725400	Weak transcription	Lung	lung
24	chr15:31724400-31725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:31724600-31725000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:31724600-31725600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:31724600-31725800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:31724600-31726600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:31724800-31725800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:31724800-31726800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr15:31725000-31726600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:31725000-31726800	Enhancers	NHEK	skin
33	chr15:31725200-31725600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:31725200-31725800	Enhancers	HMEC	breast
35	chr15:31725200-31726200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:31725200-31726600	Enhancers	Primary T cells from cord blood	blood
37	chr15:31725200-31726800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:31725200-31726800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:31725200-31728200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:31725400-31725600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:31725400-31726200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:31725400-31726600	Enhancers	Osteobl	bone
43	chr15:31725400-31726800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr15:31725400-31726800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:31725400-31726800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:31725400-31729000	Enhancers	Lung	lung
47	chr15:31725600-31725800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:31725600-31726000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:31725600-31726000	Enhancers	Placenta	Placenta
50	chr15:31725600-31726400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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