Variant report

Variant	esv2430067
Chromosome Location	chr6:149231181-149232698
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	chr14:95600894..95601480-chr6:149231090..149231639,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116080901	chr6:149231207-149231208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547039358	chr6:149231270-149231271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386408902	chr6:149231271-149231272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76972035	chr6:149231273-149231274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148286486	chr6:149231290-149231291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76737378	chr6:149231292-149231293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185928491	chr6:149231312-149231313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190248838	chr6:149231325-149231326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182088977	chr6:149231337-149231338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531285230	chr6:149231358-149231359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28547893	chr6:149231408-149231409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142818629	chr6:149231432-149231433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187642934	chr6:149231489-149231490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7773178	chr6:149231502-149231503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190695967	chr6:149231503-149231504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182111955	chr6:149231504-149231505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536890091	chr6:149231514-149231515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140927223	chr6:149231522-149231523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576550314	chr6:149231523-149231524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2086614	chr6:149231604-149231605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146263212	chr6:149231621-149231622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185142224	chr6:149231630-149231631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75648432	chr6:149231644-149231645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189952216	chr6:149231649-149231650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7759291	chr6:149231680-149231681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542442773	chr6:149231682-149231683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540273496	chr6:149231699-149231700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562563599	chr6:149231719-149231720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531500085	chr6:149231728-149231729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551200286	chr6:149231765-149231766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570768281	chr6:149231790-149231791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564949445	chr6:149231846-149231847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539863669	chr6:149231886-149231887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527330988	chr6:149231928-149231929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs971656	chr6:149231932-149231933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs141344482	chr6:149231975-149231976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536964992	chr6:149231980-149231981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550412855	chr6:149231988-149231989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201861517	chr6:149231993-149231994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71545105	chr6:149231996-149231997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7739451	chr6:149231997-149231998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558831484	chr6:149232023-149232024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6901186	chr6:149232057-149232058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114430136	chr6:149232133-149232134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554523253	chr6:149232173-149232174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574465954	chr6:149232264-149232265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376340544	chr6:149232266-149232267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562761430	chr6:149232322-149232323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548109980	chr6:149232323-149232324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193197521	chr6:149232328-149232329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149207800-149237400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:149209000-149247600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:149210200-149240200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:149210400-149235000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:149211600-149255400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:149213200-149233400	Weak transcription	Fetal Heart	heart
7	chr6:149217600-149236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:149225400-149233400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:149226600-149252800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:149226600-149255600	Weak transcription	Ovary	ovary
11	chr6:149226800-149232200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:149227200-149236400	Weak transcription	Fetal Stomach	stomach
13	chr6:149227400-149240400	Weak transcription	Pancreas	Pancrea
14	chr6:149230800-149231200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:149230800-149231200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:149230800-149238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:149230800-149244600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:149231000-149231400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:149231000-149237000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:149231000-149244200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:149231000-149245400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:149231200-149233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:149231200-149236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:149231400-149232400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:149232200-149232600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:149232200-149234400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:149232400-149235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:149232600-149236000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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