Variant report

Variant	esv3404762
Chromosome Location	chr15:49383685-49386233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49384437..49387309-chr15:49388507..49390532,2	K562	blood:
2	chr15:49381528..49383469-chr15:49384879..49386598,2	K562	blood:
3	chr15:49377443..49379648-chr15:49384094..49385731,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547799909	chr15:49383689-49383690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568046962	chr15:49383785-49383786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180679402	chr15:49383795-49383796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557141615	chr15:49383796-49383797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61578756	chr15:49383826-49383827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530211444	chr15:49383920-49383921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539526584	chr15:49383944-49383945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557838614	chr15:49384058-49384059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572970338	chr15:49384107-49384108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552679418	chr15:49384128-49384129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561648543	chr15:49384152-49384153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185110719	chr15:49384264-49384265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544547470	chr15:49384308-49384309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78012465	chr15:49384344-49384345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533318284	chr15:49384348-49384349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551557529	chr15:49384367-49384368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190003649	chr15:49384372-49384373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553249978	chr15:49384472-49384473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560256037	chr15:49384485-49384486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73406184	chr15:49384487-49384488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149498985	chr15:49384513-49384514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372521375	chr15:49384528-49384529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574182970	chr15:49384554-49384555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201115592	chr15:49384644-49384645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76534246	chr15:49384647-49384648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375799663	chr15:49384648-49384649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398070654	chr15:49384652-49384653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535756753	chr15:49384663-49384664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561287571	chr15:49384715-49384716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370327701	chr15:49384717-49384718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374026797	chr15:49384744-49384745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202130907	chr15:49384778-49384779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199949737	chr15:49384780-49384781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9744897	chr15:49384782-49384783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182457658	chr15:49384849-49384850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11637991	chr15:49384854-49384855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185609771	chr15:49384921-49384922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550557727	chr15:49384951-49384952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569033776	chr15:49384954-49384955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62013270	chr15:49384955-49384956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557973404	chr15:49384972-49384973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372136748	chr15:49384974-49384975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62009760	chr15:49384988-49384989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62009761	chr15:49384994-49384995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570395900	chr15:49385001-49385002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146660410	chr15:49385015-49385016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555420690	chr15:49385092-49385093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573519184	chr15:49385101-49385102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191543387	chr15:49385102-49385103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183859246	chr15:49385132-49385133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
CYP19A1	0	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49376200-49395200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:49376400-49397800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:49376600-49391600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:49376600-49397600	Weak transcription	NHLF	lung
5	chr15:49378400-49385000	Weak transcription	Placenta	Placenta
6	chr15:49378800-49396800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:49381400-49397400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:49381400-49402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:49381600-49385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:49381600-49386000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:49381600-49386000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:49381600-49398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:49381800-49385800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:49381800-49392400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:49381800-49395600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:49382200-49386000	Weak transcription	Brain Anterior Caudate	brain
17	chr15:49382400-49386000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:49382400-49393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:49382600-49402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:49383400-49392800	Weak transcription	NH-A	brain
21	chr15:49384000-49392400	Weak transcription	HSMM	muscle
22	chr15:49385000-49385600	Enhancers	Placenta	Placenta
23	chr15:49385200-49386800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:49385400-49385600	Weak transcription	Right Atrium	heart
25	chr15:49385600-49386800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:49385600-49403200	Weak transcription	Placenta	Placenta
27	chr15:49385800-49387000	Enhancers	Brain Substantia Nigra	brain
28	chr15:49386000-49386200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:49386000-49386400	Enhancers	Brain Hippocampus Middle	brain
30	chr15:49386000-49386400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr15:49386000-49387400	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:49386000-49387400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:49386200-49386400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:49386200-49386400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:49386200-49386400	Enhancers	Fetal Heart	heart

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