Variant report

Variant	nsv437526
Chromosome Location	chr6:150923115-150926499
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	chr6:150914794..150917748-chr6:150922118..150924160,3	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3050	chr6:150923115-150923116	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549565698	chr6:150923154-150923155	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569657468	chr6:150923174-150923175	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148375042	chr6:150923197-150923198	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62432653	chr6:150923205-150923206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565619328	chr6:150923208-150923209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534545210	chr6:150923237-150923238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141602171	chr6:150923265-150923266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568113752	chr6:150923320-150923321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201752829	chr6:150923362-150923363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145933567	chr6:150923451-150923452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73619632	chr6:150923500-150923501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377145335	chr6:150923577-150923578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531904160	chr6:150923716-150923717	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62432654	chr6:150923782-150923783	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375125093	chr6:150923868-150923869	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9398027	chr6:150923940-150923941	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541323521	chr6:150924031-150924032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12661737	chr6:150924033-150924034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574908703	chr6:150924078-150924079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543522407	chr6:150924079-150924080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60969274	chr6:150924134-150924135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192646096	chr6:150924142-150924143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551755782	chr6:150924148-150924149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558879355	chr6:150924178-150924179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528388136	chr6:150924183-150924184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571302668	chr6:150924189-150924190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548155689	chr6:150924196-150924197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13211204	chr6:150924202-150924203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs71554469	chr6:150924216-150924217	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs76594925	chr6:150924217-150924218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536828530	chr6:150924225-150924226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185336562	chr6:150924226-150924227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs56000885	chr6:150924230-150924231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377760312	chr6:150924240-150924241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371493974	chr6:150924245-150924246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17421651	chr6:150924288-150924289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570159966	chr6:150924300-150924301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539076764	chr6:150924305-150924306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189869263	chr6:150924324-150924325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11754199	chr6:150924398-150924399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572423834	chr6:150924424-150924425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535342235	chr6:150924468-150924469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376000696	chr6:150924484-150924485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554935132	chr6:150924502-150924503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575003235	chr6:150924612-150924613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6904488	chr6:150924617-150924618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs149933510	chr6:150924638-150924639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576536566	chr6:150924677-150924678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535881509	chr6:150924684-150924685	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Developmental delay	21147756	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150920400-150923200	Active TSS	Thymus	Thymus
2	chr6:150922200-150927600	Weak transcription	Spleen	Spleen
3	chr6:150922200-150930600	Weak transcription	Aorta	Aorta
4	chr6:150922400-150923400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr6:150922400-150923800	Flanking Active TSS	Fetal Thymus	thymus
6	chr6:150922400-150924800	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:150922400-150927600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:150922400-150927600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:150922400-150927600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:150922400-150941400	Weak transcription	Colonic Mucosa	Colon
11	chr6:150922600-150923200	Enhancers	Fetal Heart	heart
12	chr6:150922600-150923600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:150922600-150927800	Weak transcription	Small Intestine	intestine
14	chr6:150922600-150928000	Weak transcription	Liver	Liver
15	chr6:150922800-150924200	Enhancers	Fetal Kidney	kidney
16	chr6:150922800-150927600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:150922800-150929600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:150923000-150923600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:150923000-150927000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:150923000-150927200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:150923000-150927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:150923000-150927400	Weak transcription	Placenta	Placenta
23	chr6:150923000-150927400	Weak transcription	Right Atrium	heart
24	chr6:150923000-150927400	Weak transcription	HMEC	breast
25	chr6:150923000-150927600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:150923000-150938600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:150923200-150923600	Flanking Active TSS	Thymus	Thymus
28	chr6:150923400-150925200	Enhancers	Primary B cells from cord blood	blood
29	chr6:150923600-150923800	Active TSS	Thymus	Thymus
30	chr6:150923600-150926800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:150923600-150930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:150923800-150924000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:150923800-150924000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr6:150923800-150924200	Weak transcription	Thymus	Thymus
35	chr6:150923800-150925600	Enhancers	Fetal Thymus	thymus
36	chr6:150924200-150924800	Flanking Active TSS	Fetal Kidney	kidney
37	chr6:150924200-150925000	Enhancers	Thymus	Thymus
38	chr6:150924800-150926600	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr6:150924800-150929200	Enhancers	Fetal Kidney	kidney
40	chr6:150925000-150925600	Weak transcription	Thymus	Thymus
41	chr6:150925200-150925600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:150925600-150927400	Strong transcription	Primary B cells from cord blood	blood
43	chr6:150925600-150929400	Enhancers	Thymus	Thymus
44	chr6:150925600-150931600	Genic enhancers	Fetal Thymus	thymus

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