Variant report

Variant	esv3430529
Chromosome Location	chr15:79008847-79011545
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	chr15:79010822..79012780-chr15:79019538..79021262,2	MCF-7	breast:
2	chr15:78983812..78985475-chr15:79007336..79009142,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS7-1	chr15:79010710-79010807	XLOC_011540

Variant related genes	Relation type
ENSG00000117971	chromatin interactions
NECAP2	miRNA target sites

Extended variants
information (count: 94 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542554586	chr15:79008949-79008950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548638036	chr15:79008960-79008961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72745113	chr15:79008966-79008967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530875808	chr15:79008994-79008995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146799028	chr15:79009068-79009069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186815817	chr15:79009071-79009072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371603920	chr15:79009096-79009097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564992343	chr15:79009163-79009164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532196125	chr15:79009241-79009242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547459640	chr15:79009263-79009264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191251937	chr15:79009269-79009270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373594808	chr15:79009283-79009284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369992511	chr15:79009289-79009290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550898976	chr15:79009357-79009358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140520646	chr15:79009365-79009366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567915936	chr15:79009370-79009371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144177796	chr15:79009381-79009382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549916998	chr15:79009399-79009400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183164260	chr15:79009414-79009415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538735746	chr15:79009419-79009420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377396265	chr15:79009524-79009525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570514798	chr15:79009556-79009557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187901328	chr15:79009601-79009602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572327989	chr15:79009652-79009653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536580264	chr15:79009670-79009671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35721266	chr15:79009714-79009715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74024430	chr15:79009903-79009904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576257085	chr15:79009932-79009933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573623949	chr15:79009984-79009985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543643501	chr15:79010019-79010020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9888691	chr15:79010046-79010047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs577061045	chr15:79010054-79010055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144122787	chr15:79010094-79010095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201914184	chr15:79010099-79010100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541108558	chr15:79010149-79010150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567701081	chr15:79010155-79010156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559427863	chr15:79010158-79010159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529672983	chr15:79010189-79010190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541781859	chr15:79010191-79010192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546348138	chr15:79010205-79010206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561428050	chr15:79010214-79010215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146584243	chr15:79010251-79010252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550000701	chr15:79010310-79010311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566586747	chr15:79010360-79010361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571503660	chr15:79010365-79010366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149155968	chr15:79010405-79010406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547470371	chr15:79010479-79010480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566127834	chr15:79010498-79010499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143360928	chr15:79010586-79010587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148345684	chr15:79010587-79010588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79007000-79009400	Enhancers	NHEK	skin
2	chr15:79007200-79009400	Enhancers	Hela-S3	cervix
3	chr15:79007400-79009000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:79007600-79009200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:79007800-79009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:79007800-79009400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:79007800-79009400	Enhancers	Osteobl	bone
8	chr15:79007800-79009600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr15:79008000-79009200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:79008000-79009400	Enhancers	HMEC	breast
11	chr15:79008200-79009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:79008200-79009400	Enhancers	NH-A	brain
13	chr15:79008200-79009400	Enhancers	NHDF-Ad	bronchial
14	chr15:79008800-79009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:79008800-79010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:79009400-79011600	Weak transcription	Hela-S3	cervix
17	chr15:79010600-79011800	Enhancers	A549	lung
18	chr15:79010800-79011200	Enhancers	Colon Smooth Muscle	Colon

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