Variant report

Variant	esv13246
Chromosome Location	chr15:49767876-49782252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49760434..49762831-chr15:49768683..49770217,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COPS2-8	chr15:49781258-49781588	NONHSAT042380

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FGF7	hsa-miR-155-5p	chr15:49777589-49777610
2	FGF7	hsa-miR-155-5p	chr15:49776875-49776881
3	FGF7	hsa-miR-155-5p	chr15:49777603-49777610
4	FGF7	hsa-miR-20a-5p	chr15:49778246-49778268

Extended variants
information (count: 482 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536606175	chr15:49767886-49767887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555699758	chr15:49767904-49767905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545021138	chr15:49767906-49767907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544436446	chr15:49767922-49767923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57186766	chr15:49767925-49767926	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577698138	chr15:49767951-49767952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544775876	chr15:49768012-49768013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527316511	chr15:49768053-49768054	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188937940	chr15:49768054-49768055	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367947667	chr15:49768072-49768073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138343431	chr15:49768124-49768125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542169629	chr15:49768158-49768159	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561262201	chr15:49768220-49768221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16973952	chr15:49768274-49768275	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71467684	chr15:49768327-49768328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549988829	chr15:49768341-49768342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531451844	chr15:49768360-49768361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4321137	chr15:49768361-49768362	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4614670	chr15:49768368-49768369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71467685	chr15:49768384-49768385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71467686	chr15:49768387-49768388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200032273	chr15:49768414-49768415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56159203	chr15:49768422-49768423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143285386	chr15:49768428-49768429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55962908	chr15:49768429-49768430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536269896	chr15:49768434-49768435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554970945	chr15:49768451-49768452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567603855	chr15:49768520-49768521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2413957	chr15:49768659-49768660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182626756	chr15:49768719-49768720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377223382	chr15:49768730-49768731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577754273	chr15:49768745-49768746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187778205	chr15:49768765-49768766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34749168	chr15:49768803-49768804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371540273	chr15:49768804-49768805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3075949	chr15:49768805-49768806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553588462	chr15:49768812-49768813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191643723	chr15:49768821-49768822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200945867	chr15:49768833-49768834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184114043	chr15:49768837-49768838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542248671	chr15:49768855-49768856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560525557	chr15:49768877-49768878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531926597	chr15:49768920-49768921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548306069	chr15:49768955-49768956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543696969	chr15:49768961-49768962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565530790	chr15:49768973-49768974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532599202	chr15:49768995-49768996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566513287	chr15:49769009-49769010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533961587	chr15:49769017-49769018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8039062	chr15:49769022-49769023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49764600-49788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:49764800-49775200	Weak transcription	Osteobl	bone
3	chr15:49765800-49775800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:49765800-49783200	Weak transcription	NHDF-Ad	bronchial
5	chr15:49767000-49768200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:49767200-49768200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:49767600-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:49768200-49768600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:49768200-49771800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:49768600-49769600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:49769600-49770000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:49770000-49772000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:49771800-49773000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:49772000-49772200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:49772200-49773800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:49773000-49775200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:49773800-49774200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:49774200-49775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:49775200-49775600	Strong transcription	Osteobl	bone
20	chr15:49775200-49776400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:49775200-49777000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:49775200-49781800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:49775600-49781000	Weak transcription	Osteobl	bone
24	chr15:49775800-49776000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:49776000-49776200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:49776200-49776400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:49776400-49777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:49776400-49781600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:49777000-49777400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:49777200-49778400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:49777200-49788800	Weak transcription	Fetal Lung	lung
32	chr15:49777400-49779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:49778400-49787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:49779000-49780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:49780000-49781800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:49781000-49781800	Strong transcription	Osteobl	bone
37	chr15:49781600-49781800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:49781800-49782200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:49781800-49782400	Weak transcription	Osteobl	bone
40	chr15:49781800-49784600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:49781800-49789800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:49782200-49788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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