Variant report

Variant	esv1826848
Chromosome Location	chr15:49775145-49780665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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: 170 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3985838	chr15:49775145-49775146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113659909	chr15:49775147-49775148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2413949	chr15:49775148-49775149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35767831	chr15:49775158-49775159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3985839	chr15:49775177-49775178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3985840	chr15:49775178-49775179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2899432	chr15:49775195-49775196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544715369	chr15:49775217-49775218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2413950	chr15:49775222-49775223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559697329	chr15:49775257-49775258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3985841	chr15:49775281-49775282	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542905281	chr15:49775289-49775290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3985842	chr15:49775306-49775307	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189366807	chr15:49775309-49775310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372450880	chr15:49775313-49775314	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3959661	chr15:49775318-49775319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376421816	chr15:49775325-49775326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3959662	chr15:49775379-49775380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs267604241	chr15:49775435-49775436	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531831948	chr15:49775541-49775542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180759818	chr15:49775566-49775567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11853248	chr15:49775594-49775595	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs111889669	chr15:49775597-49775598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183848163	chr15:49775677-49775678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62009978	chr15:49775682-49775683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59164927	chr15:49775683-49775684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543024592	chr15:49775719-49775720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547856307	chr15:49775731-49775732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28409376	chr15:49775757-49775758	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536607569	chr15:49775876-49775877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549303472	chr15:49775879-49775880	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141619260	chr15:49776029-49776030	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537662980	chr15:49776072-49776073	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146984438	chr15:49776119-49776120	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577693553	chr15:49776134-49776135	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188513054	chr15:49776141-49776142	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113812225	chr15:49776184-49776185	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181430062	chr15:49776190-49776191	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571719079	chr15:49776195-49776196	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542187626	chr15:49776205-49776206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561260474	chr15:49776250-49776251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4592604	chr15:49776339-49776340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371261261	chr15:49776394-49776395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12438444	chr15:49776431-49776432	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560303879	chr15:49776445-49776446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369373528	chr15:49776478-49776479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373343090	chr15:49776487-49776488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543683785	chr15:49776489-49776490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376370428	chr15:49776501-49776502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148602079	chr15:49776510-49776511	Weak transcription Strong 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
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:24 , 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	chr15:49767600-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:49773000-49775200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:49774200-49775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:49775200-49775600	Strong transcription	Osteobl	bone
9	chr15:49775200-49776400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:49775200-49777000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:49775200-49781800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:49775600-49781000	Weak transcription	Osteobl	bone
13	chr15:49775800-49776000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:49776000-49776200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:49776200-49776400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:49776400-49777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:49776400-49781600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:49777000-49777400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:49777200-49778400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:49777200-49788800	Weak transcription	Fetal Lung	lung
21	chr15:49777400-49779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:49778400-49787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:49779000-49780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:49780000-49781800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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