Variant report

Variant	esv2763601
Chromosome Location	chr6:150412587-150425522
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:
2	chr6:150420929..150422703-chr6:150428326..150430256,2	K562	blood:
3	chr6:150409275..150411139-chr6:150425128..150427756,2	K562	blood:
4	chr6:150410347..150413118-chr6:150413236..150416818,3	MCF-7	breast:
5	chr6:150410347..150413118-chr6:150413236..150416818,3	MCF-7	breast:
6	chr6:150421701..150424614-chr6:150433615..150435705,2	K562	blood:
7	chr6:150410116..150412744-chr6:150428842..150431815,2	K562	blood:
8	chr6:150418965..150420517-chr6:150430533..150432429,2	K562	blood:
9	chr6:150419610..150420185-chr6:150610668..150611430,2	K562	blood:
10	chr6:150417796..150419721-chr6:150422461..150424493,2	K562	blood:
11	chr6:150417796..150419721-chr6:150422461..150424493,2	K562	blood:

No data

Extended variants
information (count: 537 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12528907	chr6:150412587-150412588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577630182	chr6:150412590-150412591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540338206	chr6:150412602-150412603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567199190	chr6:150412607-150412608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12662996	chr6:150412629-150412630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528943167	chr6:150412648-150412649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147663247	chr6:150412711-150412712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562668938	chr6:150412715-150412716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142310102	chr6:150412716-150412717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562100954	chr6:150412745-150412746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs6933642	chr6:150412758-150412759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539505016	chr6:150412774-150412775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs659156	chr6:150412833-150412834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs373887597	chr6:150412883-150412884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535488105	chr6:150412896-150412897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs659589	chr6:150412942-150412943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6934024	chr6:150412948-150412949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371574049	chr6:150413094-150413095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs660395	chr6:150413095-150413096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558026448	chr6:150413122-150413123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377005416	chr6:150413132-150413133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540327658	chr6:150413136-150413137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370311742	chr6:150413153-150413154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200264331	chr6:150413175-150413176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6934449	chr6:150413176-150413177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201452086	chr6:150413195-150413196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113018062	chr6:150413200-150413201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370232125	chr6:150413270-150413271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562520948	chr6:150413278-150413279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566141	chr6:150413303-150413304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113703879	chr6:150413330-150413331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528967512	chr6:150413344-150413345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527527067	chr6:150413345-150413346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs671519	chr6:150413346-150413347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566650179	chr6:150413365-150413366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370834446	chr6:150413378-150413379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529365926	chr6:150413412-150413413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55971453	chr6:150413430-150413431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs671987	chr6:150413431-150413432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13195022	chr6:150413445-150413446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs672037	chr6:150413466-150413467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558474491	chr6:150413468-150413469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571738500	chr6:150413470-150413471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534423083	chr6:150413479-150413480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554430173	chr6:150413483-150413484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545629850	chr6:150413540-150413541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542755538	chr6:150413547-150413548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555841369	chr6:150413581-150413582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9479640	chr6:150413603-150413604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140884892	chr6:150413604-150413605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150409000-150412600	Weak transcription	NHEK	skin
2	chr6:150409000-150413800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:150410200-150412600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:150410400-150421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:150410600-150414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:150411400-150413000	Enhancers	Brain Substantia Nigra	brain
7	chr6:150411600-150413200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:150411800-150413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:150412200-150413000	Enhancers	Brain Hippocampus Middle	brain
10	chr6:150412200-150413800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:150412400-150412800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr6:150412400-150413000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:150412400-150413000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:150412400-150413000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:150412400-150413000	Enhancers	Brain Angular Gyrus	brain
16	chr6:150412400-150413000	Enhancers	Brain Anterior Caudate	brain
17	chr6:150412400-150413000	Enhancers	HMEC	breast
18	chr6:150412400-150416200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:150412600-150412800	Enhancers	Fetal Brain Male	brain
20	chr6:150412600-150413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:150412600-150413000	Enhancers	Brain Germinal Matrix	brain
22	chr6:150412600-150413000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:150412600-150413000	Enhancers	Fetal Brain Female	brain
24	chr6:150412600-150413000	Enhancers	NHEK	skin
25	chr6:150412800-150413000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:150412800-150413000	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:150412800-150413200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:150413000-150413400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:150413000-150414200	Weak transcription	Fetal Brain Female	brain
30	chr6:150413000-150414400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:150413000-150414400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:150413000-150414600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:150413000-150414600	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:150413000-150414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:150413000-150414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:150413200-150413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:150413200-150414400	Weak transcription	Fetal Brain Male	brain
38	chr6:150413200-150414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:150413200-150414600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:150413400-150415800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:150413800-150414600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:150413800-150414600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:150413800-150416200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:150414400-150414600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:150414400-150414800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:150414400-150414800	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:150414400-150415400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:150414400-150415400	Enhancers	Osteobl	bone
49	chr6:150414400-150415800	Enhancers	Fetal Brain Male	brain
50	chr6:150414600-150414800	Enhancers	Brain Anterior Caudate	brain

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