Variant report

Variant	nsv1028824
Chromosome Location	chr6:162303108-162335974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
2	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
3	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
4	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
5	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:

Extended variants
information (count: 1532 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1532 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9355366	chr6:162303108-162303109	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560066813	chr6:162303145-162303146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532544287	chr6:162303200-162303201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529084258	chr6:162303222-162303223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540913689	chr6:162303299-162303300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200635992	chr6:162303365-162303366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377342993	chr6:162303382-162303383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187199781	chr6:162303417-162303418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548782482	chr6:162303423-162303424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568685201	chr6:162303429-162303430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114666302	chr6:162303431-162303432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34486110	chr6:162303478-162303479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570422497	chr6:162303481-162303482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539410041	chr6:162303492-162303493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555935267	chr6:162303500-162303501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59080739	chr6:162303513-162303514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62438265	chr6:162303533-162303534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555110614	chr6:162303551-162303552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570091732	chr6:162303570-162303571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531785368	chr6:162303589-162303590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571910670	chr6:162303595-162303596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540885190	chr6:162303603-162303604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144711752	chr6:162303640-162303641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78713403	chr6:162303645-162303646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564026988	chr6:162303687-162303688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368614378	chr6:162303703-162303704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191659259	chr6:162303741-162303742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562776225	chr6:162303753-162303754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531796409	chr6:162303755-162303756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183754935	chr6:162303762-162303763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548720959	chr6:162303773-162303774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370240869	chr6:162303806-162303807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373697463	chr6:162303810-162303811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571123728	chr6:162303878-162303879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138418031	chr6:162303880-162303881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149406867	chr6:162303904-162303905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569568627	chr6:162303940-162303941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146376043	chr6:162303953-162303954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555051203	chr6:162303961-162303962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571846785	chr6:162303999-162304000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540821806	chr6:162304005-162304006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9364619	chr6:162304040-162304041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386708006	chr6:162304045-162304046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188487448	chr6:162304049-162304050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567837666	chr6:162304050-162304051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9365335	chr6:162304052-162304053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543366274	chr6:162304064-162304065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72098548	chr6:162304065-162304066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200669288	chr6:162304066-162304067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9364620	chr6:162304067-162304068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162291000-162311400	Weak transcription	Ovary	ovary
2	chr6:162302000-162303400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:162302800-162303400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:162302800-162303600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:162302800-162304400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:162303400-162303600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:162303600-162311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:162307200-162310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
10	chr6:162310200-162310400	Enhancers	Brain Substantia Nigra	brain
11	chr6:162310200-162310800	Enhancers	Fetal Brain Male	brain
12	chr6:162310200-162311000	Enhancers	Brain Angular Gyrus	brain
13	chr6:162310200-162311400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:162310200-162312200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:162310400-162310600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr6:162310400-162311000	Enhancers	Brain Hippocampus Middle	brain
17	chr6:162310400-162311000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:162310400-162311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:162310400-162311200	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:162310400-162311200	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr6:162310400-162311200	Enhancers	Fetal Brain Female	brain
22	chr6:162310400-162311400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr6:162310400-162311400	Enhancers	Brain Anterior Caudate	brain
24	chr6:162310400-162311400	Enhancers	Brain Germinal Matrix	brain
25	chr6:162310400-162311600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:162310400-162312200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:162310400-162312200	Enhancers	Fetal Muscle Leg	muscle
28	chr6:162310600-162311400	Enhancers	Fetal Lung	lung
29	chr6:162310800-162311200	Weak transcription	Fetal Brain Male	brain
30	chr6:162311000-162311200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr6:162311000-162311400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:162311000-162311600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr6:162311000-162311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:162311000-162311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:162311000-162311600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:162311000-162312000	Active TSS	Brain Hippocampus Middle	brain
37	chr6:162311200-162311400	Active TSS	Brain Substantia Nigra	brain
38	chr6:162311200-162311400	Flanking Active TSS	Fetal Brain Female	brain
39	chr6:162311200-162311600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr6:162311200-162311600	Active TSS	Brain Angular Gyrus	brain
41	chr6:162311200-162311800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:162311200-162311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:162311200-162312400	Active TSS	Brain Cingulate Gyrus	brain
44	chr6:162311200-162312400	Enhancers	Fetal Brain Male	brain
45	chr6:162311200-162312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:162311400-162311600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:162311400-162311600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:162311400-162311600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:162311400-162311600	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr6:162311400-162311600	Active TSS	Fetal Brain Female	brain

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