Variant report

Variant	nsv1016239
Chromosome Location	chr6:150407607-150424171
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150417796..150419721-chr6:150422461..150424493,2	K562	blood:
2	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:
3	chr6:150417796..150419721-chr6:150422461..150424493,2	K562	blood:
4	chr6:150421701..150424614-chr6:150433615..150435705,2	K562	blood:
5	chr6:150420929..150422703-chr6:150428326..150430256,2	K562	blood:
6	chr6:150419610..150420185-chr6:150610668..150611430,2	K562	blood:
7	chr6:150410347..150413118-chr6:150413236..150416818,3	MCF-7	breast:
8	chr6:150418965..150420517-chr6:150430533..150432429,2	K562	blood:
9	chr6:150400674..150403275-chr6:150407304..150409849,2	K562	blood:
10	chr6:150410116..150412744-chr6:150428842..150431815,2	K562	blood:
11	chr6:150409275..150411139-chr6:150425128..150427756,2	K562	blood:
12	chr6:150410347..150413118-chr6:150413236..150416818,3	MCF-7	breast:

No data

Extended variants
information (count: 775 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17510968	chr6:150407607-150407608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562188706	chr6:150407637-150407638	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs543889870	chr6:150407680-150407681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs563817900	chr6:150407684-150407685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577154100	chr6:150407721-150407722	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs375904845	chr6:150407729-150407730	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs111942799	chr6:150407734-150407735	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs148806109	chr6:150407745-150407746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs369521531	chr6:150407771-150407772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs4869821	chr6:150407817-150407818	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192077374	chr6:150407906-150407907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs575232793	chr6:150407962-150407963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs182896594	chr6:150408017-150408018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143889901	chr6:150408043-150408044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187570619	chr6:150408046-150408047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543956025	chr6:150408086-150408087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs789830	chr6:150408096-150408097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs789829	chr6:150408111-150408112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs192570817	chr6:150408135-150408136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546544975	chr6:150408244-150408245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566360175	chr6:150408259-150408260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140664922	chr6:150408260-150408261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115971440	chr6:150408285-150408286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375606716	chr6:150408296-150408297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368331340	chr6:150408302-150408303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575505908	chr6:150408304-150408305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538073850	chr6:150408330-150408331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144355552	chr6:150408331-150408332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs789828	chr6:150408364-150408365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182116285	chr6:150408379-150408380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560443610	chr6:150408394-150408395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573161996	chr6:150408404-150408405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542116716	chr6:150408408-150408409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs789827	chr6:150408440-150408441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs151068168	chr6:150408444-150408445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550787946	chr6:150408491-150408492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564544519	chr6:150408532-150408533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17079222	chr6:150408545-150408546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546387269	chr6:150408619-150408620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79074019	chr6:150408634-150408635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530966754	chr6:150408636-150408637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528927519	chr6:150408638-150408639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs789826	chr6:150408681-150408682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140976540	chr6:150408747-150408748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145184929	chr6:150408841-150408842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569205345	chr6:150408945-150408946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs789825	chr6:150408946-150408947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs375052157	chr6:150409006-150409007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376763705	chr6:150409052-150409053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557951096	chr6:150409067-150409068	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150391200-150410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:150400800-150408400	Weak transcription	NHEK	skin
3	chr6:150401000-150408200	Weak transcription	HMEC	breast
4	chr6:150401000-150408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150401000-150408400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:150407400-150408800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:150407600-150408000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:150407800-150408000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:150407800-150409000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:150408000-150408800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:150408000-150408800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:150408000-150409200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:150408200-150409000	Enhancers	HMEC	breast
14	chr6:150408400-150408800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:150408400-150408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:150408400-150409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:150408400-150409000	Enhancers	NHEK	skin
18	chr6:150408800-150409000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:150408800-150410000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:150408800-150412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:150409000-150409400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:150409000-150412400	Weak transcription	HMEC	breast
23	chr6:150409000-150412600	Weak transcription	NHEK	skin
24	chr6:150409000-150413800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:150409200-150409600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:150409400-150409800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:150409600-150410600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:150409800-150410000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:150409800-150410000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr6:150409800-150410000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr6:150409800-150410000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr6:150409800-150410000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:150409800-150410400	Enhancers	Brain Anterior Caudate	brain
34	chr6:150409800-150410400	Enhancers	Fetal Thymus	thymus
35	chr6:150410000-150410200	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:150410000-150410200	Enhancers	Brain Hippocampus Middle	brain
37	chr6:150410000-150410200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:150410000-150410200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:150410000-150410200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr6:150410000-150410400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:150410000-150410400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:150410000-150410400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:150410000-150410400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:150410000-150410400	Bivalent Enhancer	K562	blood
45	chr6:150410000-150412400	Weak transcription	Brain Angular Gyrus	brain
46	chr6:150410200-150410400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:150410200-150410600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:150410200-150411400	Weak transcription	Brain Substantia Nigra	brain
49	chr6:150410200-150411600	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:150410200-150412400	Weak transcription	Brain Cingulate Gyrus	brain

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