Variant report

Variant	esv3438626
Chromosome Location	chr15:99629374-99630147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563823135	chr15:99629385-99629386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530079503	chr15:99629389-99629390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548623290	chr15:99629392-99629393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570054747	chr15:99629403-99629404	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531375552	chr15:99629422-99629423	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4965210	chr15:99629446-99629447	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571145441	chr15:99629465-99629466	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538524468	chr15:99629531-99629532	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190630048	chr15:99629563-99629564	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565662628	chr15:99629573-99629574	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182803339	chr15:99629574-99629575	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4965211	chr15:99629577-99629578	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576218639	chr15:99629604-99629605	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543574563	chr15:99629605-99629606	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368077695	chr15:99629671-99629672	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567205856	chr15:99629702-99629703	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78704799	chr15:99629714-99629715	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577557393	chr15:99629715-99629716	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541700412	chr15:99629820-99629821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559803942	chr15:99629825-99629826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576514362	chr15:99629845-99629846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541879259	chr15:99629846-99629847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536999962	chr15:99629851-99629852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371956190	chr15:99629856-99629857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530897229	chr15:99629859-99629860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552282202	chr15:99629875-99629876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4965212	chr15:99629901-99629902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139927913	chr15:99629937-99629938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185755293	chr15:99629943-99629944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72756805	chr15:99629972-99629973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565842798	chr15:99629980-99629981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536208459	chr15:99629999-99630000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191480120	chr15:99630000-99630001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143667337	chr15:99630009-99630010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182798277	chr15:99630035-99630036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146825556	chr15:99630046-99630047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556747118	chr15:99630065-99630066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568954036	chr15:99630088-99630089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558724493	chr15:99630100-99630101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577471031	chr15:99630113-99630114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200381984	chr15:99630141-99630142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150142405	chr15:99630142-99630143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99627400-99629600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:99628400-99629400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:99628600-99629600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:99628600-99629600	Enhancers	NHDF-Ad	bronchial
5	chr15:99628600-99629800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:99628600-99629800	Enhancers	Osteobl	bone
7	chr15:99628600-99630000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr15:99628800-99629600	Enhancers	NHLF	lung
9	chr15:99628800-99629800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:99628800-99629800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:99628800-99630000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:99629000-99629400	Enhancers	NH-A	brain
13	chr15:99629000-99632400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr15:99629200-99629400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:99629200-99629400	Enhancers	Psoas Muscle	Psoas
16	chr15:99629200-99629800	Enhancers	Fetal Muscle Leg	muscle
17	chr15:99629200-99632000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:99629400-99629800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:99629400-99631600	Weak transcription	Psoas Muscle	Psoas
20	chr15:99629600-99632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:99629800-99630200	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:99630000-99630200	Enhancers	GM12878-XiMat	blood

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