Variant report

Variant	nsv886838
Chromosome Location	chr6:162310091-162483954
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
2	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
3	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
4	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
5	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
6	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
7	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
8	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
9	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
10	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
11	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
12	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
13	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
14	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
15	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
16	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
17	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
18	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
19	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:

No data

Extended variants
information (count: 6071 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:6071 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9346888	chr6:162310091-162310092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552600301	chr6:162310141-162310142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76350372	chr6:162310182-162310183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117135450	chr6:162310191-162310192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564623366	chr6:162310205-162310206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150393799	chr6:162310277-162310278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60428151	chr6:162310327-162310328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546342341	chr6:162310337-162310338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565959908	chr6:162310338-162310339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9355949	chr6:162310363-162310364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569329981	chr6:162310388-162310389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148751061	chr6:162310395-162310396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535128539	chr6:162310439-162310440	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181990164	chr6:162310447-162310448	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186325420	chr6:162310460-162310461	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149744205	chr6:162310476-162310477	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557959066	chr6:162310478-162310479	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9355950	chr6:162310496-162310497	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561913769	chr6:162310502-162310503	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73604806	chr6:162310517-162310518	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576508237	chr6:162310588-162310589	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542303436	chr6:162310608-162310609	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555572275	chr6:162310615-162310616	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190818200	chr6:162310616-162310617	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148819569	chr6:162310661-162310662	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs57490946	chr6:162310668-162310669	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145363395	chr6:162310718-162310719	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146444656	chr6:162310733-162310734	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs55744616	chr6:162310788-162310789	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141350415	chr6:162310849-162310850	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528847956	chr6:162310869-162310870	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555070158	chr6:162310899-162310900	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145086189	chr6:162311024-162311025	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565615769	chr6:162311025-162311026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528223604	chr6:162311081-162311082	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554928729	chr6:162311090-162311091	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs202186289	chr6:162311126-162311127	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs551253255	chr6:162311156-162311157	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571441553	chr6:162311168-162311169	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148348038	chr6:162311212-162311213	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573242769	chr6:162311219-162311220	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557302429	chr6:162311290-162311291	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9355951	chr6:162311393-162311394	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558737754	chr6:162311396-162311397	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112890472	chr6:162311407-162311408	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141592094	chr6:162311410-162311411	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555761682	chr6:162311411-162311412	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150479369	chr6:162311431-162311432	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180681488	chr6:162311464-162311465	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558019911	chr6:162311468-162311469	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162291000-162311400	Weak transcription	Ovary	ovary
2	chr6:162303600-162311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162307200-162310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
5	chr6:162310200-162310400	Enhancers	Brain Substantia Nigra	brain
6	chr6:162310200-162310800	Enhancers	Fetal Brain Male	brain
7	chr6:162310200-162311000	Enhancers	Brain Angular Gyrus	brain
8	chr6:162310200-162311400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:162310200-162312200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:162310400-162310600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr6:162310400-162311000	Enhancers	Brain Hippocampus Middle	brain
12	chr6:162310400-162311000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:162310400-162311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:162310400-162311200	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:162310400-162311200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr6:162310400-162311200	Enhancers	Fetal Brain Female	brain
17	chr6:162310400-162311400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr6:162310400-162311400	Enhancers	Brain Anterior Caudate	brain
19	chr6:162310400-162311400	Enhancers	Brain Germinal Matrix	brain
20	chr6:162310400-162311600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:162310400-162312200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:162310400-162312200	Enhancers	Fetal Muscle Leg	muscle
23	chr6:162310600-162311400	Enhancers	Fetal Lung	lung
24	chr6:162310800-162311200	Weak transcription	Fetal Brain Male	brain
25	chr6:162311000-162311200	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr6:162311000-162311400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:162311000-162311600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr6:162311000-162311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:162311000-162311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:162311000-162311600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:162311000-162312000	Active TSS	Brain Hippocampus Middle	brain
32	chr6:162311200-162311400	Active TSS	Brain Substantia Nigra	brain
33	chr6:162311200-162311400	Flanking Active TSS	Fetal Brain Female	brain
34	chr6:162311200-162311600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr6:162311200-162311600	Active TSS	Brain Angular Gyrus	brain
36	chr6:162311200-162311800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:162311200-162311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:162311200-162312400	Active TSS	Brain Cingulate Gyrus	brain
39	chr6:162311200-162312400	Enhancers	Fetal Brain Male	brain
40	chr6:162311200-162312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:162311400-162311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:162311400-162311600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:162311400-162311600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:162311400-162311600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr6:162311400-162311600	Active TSS	Fetal Brain Female	brain
46	chr6:162311400-162311800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr6:162311400-162311800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:162311400-162311800	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:162311400-162312000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr6:162311400-162312000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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