Variant report

Variant	esv3470750
Chromosome Location	chr5:146841408-146843749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:146843342..146844495-chr5:146957725..146958288,5	MCF-7	breast:
2	chr5:146843544..146844324-chr5:146956668..146957286,3	MCF-7	breast:
3	chr5:146843533..146844497-chr5:146938186..146939120,6	MCF-7	breast:
4	chr5:146841686..146842370-chr5:146957260..146958248,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187727014	chr5:146841470-146841471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376420070	chr5:146841493-146841494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193211109	chr5:146841494-146841495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577563758	chr5:146841561-146841562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114780466	chr5:146841569-146841570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370192779	chr5:146841576-146841577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373649629	chr5:146841600-146841601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527384904	chr5:146841665-146841666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573156124	chr5:146841792-146841793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547172258	chr5:146841853-146841854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138041229	chr5:146841863-146841864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185560361	chr5:146841891-146841892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561915804	chr5:146841930-146841931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530949213	chr5:146841985-146841986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551029967	chr5:146841995-146841996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116625079	chr5:146842018-146842019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533349789	chr5:146842072-146842073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73794765	chr5:146842119-146842120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141954921	chr5:146842122-146842123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190123502	chr5:146842140-146842141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549215391	chr5:146842160-146842161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76854988	chr5:146842195-146842196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35976111	chr5:146842277-146842278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77537743	chr5:146842283-146842284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557825395	chr5:146842293-146842294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79096202	chr5:146842339-146842340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533788050	chr5:146842379-146842380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553325535	chr5:146842381-146842382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573218973	chr5:146842383-146842384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557756183	chr5:146842461-146842462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569230273	chr5:146842490-146842491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542104492	chr5:146842497-146842498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555565956	chr5:146842524-146842525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575426862	chr5:146842535-146842536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544418218	chr5:146842539-146842540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564611628	chr5:146842596-146842597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533222775	chr5:146842624-146842625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145807212	chr5:146842653-146842654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181586226	chr5:146842657-146842658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368668754	chr5:146842698-146842699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560481794	chr5:146842702-146842703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529237703	chr5:146842712-146842713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138668502	chr5:146842717-146842718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374535986	chr5:146842718-146842719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75736242	chr5:146842743-146842744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531543782	chr5:146842764-146842765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551186557	chr5:146842766-146842767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551241316	chr5:146842806-146842807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571343048	chr5:146842833-146842834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371599215	chr5:146842859-146842860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146835800-146858800	Weak transcription	NH-A	brain
2	chr5:146836000-146841800	Weak transcription	NHDF-Ad	bronchial
3	chr5:146836000-146842200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:146836000-146843600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:146836000-146844000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:146836000-146845400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:146836200-146844000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:146836200-146845200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:146836200-146845200	Weak transcription	Ovary	ovary
10	chr5:146836200-146846200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:146836200-146846200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:146836200-146851600	Weak transcription	Fetal Stomach	stomach
13	chr5:146836400-146845000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:146838400-146844200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:146838400-146846000	Weak transcription	Left Ventricle	heart
16	chr5:146839400-146843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:146839400-146844000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:146839600-146851600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:146839600-146852200	Weak transcription	Aorta	Aorta
20	chr5:146839800-146841600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:146839800-146846000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:146840000-146843600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:146840000-146859200	Weak transcription	NHLF	lung
24	chr5:146840400-146845800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:146840800-146846000	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:146841000-146844000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:146841200-146847200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:146841400-146841600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:146841400-146842600	Enhancers	Osteobl	bone
30	chr5:146841400-146843400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:146841600-146842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:146841600-146845800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:146841800-146842200	Enhancers	NHDF-Ad	bronchial
34	chr5:146842200-146842600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:146842600-146844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:146842600-146857600	Weak transcription	Osteobl	bone
37	chr5:146842800-146851600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:146843200-146843800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:146843400-146844400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:146843600-146844200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:146843600-146844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:146843600-146844400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:146843600-146844400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:146843600-146844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:146843600-146844400	Enhancers	Right Atrium	heart

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