Variant report

Variant	esv8493
Chromosome Location	chr15:35008754-35009627
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	chr15:35001097..35003090-chr15:35007070..35008790,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565992727	chr15:35008778-35008779	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528426135	chr15:35008803-35008804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375276683	chr15:35008804-35008805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113840762	chr15:35008805-35008806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61179689	chr15:35008819-35008820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12899593	chr15:35008868-35008869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551435031	chr15:35008879-35008880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188512033	chr15:35008890-35008891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193041998	chr15:35008894-35008895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555461595	chr15:35008930-35008931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566014030	chr15:35008962-35008963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183015654	chr15:35008967-35008968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58419065	chr15:35008981-35008982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115655727	chr15:35008992-35008993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200981311	chr15:35009034-35009035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202243794	chr15:35009035-35009036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200491151	chr15:35009036-35009037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563342441	chr15:35009037-35009038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575195243	chr15:35009038-35009039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542727262	chr15:35009042-35009043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561017458	chr15:35009043-35009044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62006116	chr15:35009179-35009180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528556149	chr15:35009203-35009204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547603294	chr15:35009211-35009212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559273182	chr15:35009214-35009215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62006117	chr15:35009242-35009243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533304567	chr15:35009255-35009256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188102517	chr15:35009346-35009347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113419412	chr15:35009350-35009351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112364469	chr15:35009351-35009352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551655333	chr15:35009396-35009397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553142527	chr15:35009398-35009399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78401505	chr15:35009411-35009412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537010530	chr15:35009450-35009451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113162791	chr15:35009500-35009501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188074666	chr15:35009581-35009582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567385228	chr15:35009621-35009622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs145902404	chr15:35009625-35009626	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35001200-35009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:35001600-35013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:35003000-35011000	Weak transcription	HSMM	muscle
4	chr15:35006400-35011000	Weak transcription	Right Atrium	heart
5	chr15:35007400-35009600	Weak transcription	HSMMtube	muscle
6	chr15:35007400-35011800	Weak transcription	K562	blood
7	chr15:35008000-35009800	Enhancers	Liver	Liver
8	chr15:35008200-35010000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr15:35008400-35008800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:35008400-35008800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr15:35008600-35008800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr15:35008600-35009600	Weak transcription	Psoas Muscle	Psoas
13	chr15:35008600-35010000	Enhancers	Fetal Muscle Leg	muscle
14	chr15:35008600-35011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:35008600-35011000	Weak transcription	Right Ventricle	heart
16	chr15:35008600-35011600	Weak transcription	Left Ventricle	heart
17	chr15:35008600-35011800	Weak transcription	Aorta	Aorta
18	chr15:35008600-35014200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:35008800-35010200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:35008800-35010200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:35008800-35014200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr15:35009400-35015200	Enhancers	Fetal Heart	heart
23	chr15:35009600-35009800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:35009600-35010000	Enhancers	Psoas Muscle	Psoas
25	chr15:35009600-35011800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:35009600-35012200	Enhancers	HSMMtube	muscle
27	chr15:35009600-35014000	Enhancers	Hela-S3	cervix

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