Variant report

Variant	nsv520807
Chromosome Location	chr6:161652003-161652703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161625007..161627754-chr6:161650672..161652327,2	K562	blood:
2	chr6:161643850..161652009-chr6:161690298..161699013,9	K562	blood:
3	chr6:161646998..161649019-chr6:161649045..161652363,4	K562	blood:
4	chr6:161412566..161414577-chr6:161651798..161653599,2	K562	blood:
5	chr6:161650432..161652504-chr6:161681680..161683912,2	K562	blood:

Variant related genes	Relation type
ENSG00000026652	chromatin interactions
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3798938	chr6:161652003-161652004	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558900862	chr6:161652055-161652056	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147388847	chr6:161652075-161652076	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10658657	chr6:161652090-161652091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376600146	chr6:161652091-161652092	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs60110191	chr6:161652092-161652093	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397688281	chr6:161652094-161652095	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370930239	chr6:161652102-161652103	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544356999	chr6:161652139-161652140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56253745	chr6:161652165-161652166	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200443172	chr6:161652217-161652218	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61624932	chr6:161652221-161652222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73595087	chr6:161652235-161652236	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540781025	chr6:161652236-161652237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187889109	chr6:161652298-161652299	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559173195	chr6:161652398-161652399	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559132134	chr6:161652399-161652400	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138021123	chr6:161652424-161652425	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192177863	chr6:161652467-161652468	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184443105	chr6:161652527-161652528	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571377566	chr6:161652535-161652536	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188082067	chr6:161652556-161652557	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs76314726	chr6:161652622-161652623	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550389641	chr6:161652650-161652651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567457546	chr6:161652658-161652659	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79077384	chr6:161652663-161652664	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191609299	chr6:161652664-161652665	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143944753	chr6:161652675-161652676	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6455709	chr6:161652676-161652677	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs59346751	chr6:161652685-161652686	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559229835	chr6:161652688-161652689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13194692	chr6:161652703-161652704	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161636600-161655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:161636600-161656000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161638200-161693800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:161638600-161668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:161639000-161666200	Weak transcription	Aorta	Aorta
6	chr6:161639200-161664400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:161644400-161655000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:161646000-161653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:161647200-161663200	Weak transcription	Thymus	Thymus
10	chr6:161648000-161654000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:161648000-161656800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:161648000-161660600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:161648400-161653800	Strong transcription	Primary B cells from cord blood	blood
14	chr6:161648800-161656800	Weak transcription	Right Ventricle	heart
15	chr6:161649200-161655000	Weak transcription	HMEC	breast
16	chr6:161649400-161657400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:161649400-161662800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:161649600-161693800	Weak transcription	Right Atrium	heart
19	chr6:161650000-161655000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:161650000-161662800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:161650200-161655000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:161650200-161656800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:161650400-161658000	Enhancers	Brain Substantia Nigra	brain
24	chr6:161650600-161652400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:161650600-161652800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:161650600-161655000	Weak transcription	NHEK	skin
27	chr6:161650800-161652800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:161650800-161653400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:161650800-161653800	Weak transcription	Brain Germinal Matrix	brain
30	chr6:161650800-161653800	Weak transcription	Fetal Heart	heart
31	chr6:161650800-161654200	Weak transcription	Fetal Brain Female	brain
32	chr6:161650800-161655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:161650800-161655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:161650800-161655000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:161650800-161655000	Weak transcription	NHLF	lung
36	chr6:161650800-161655200	Weak transcription	Fetal Lung	lung
37	chr6:161651000-161652200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:161651000-161652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:161651000-161652400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:161651000-161652600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:161651000-161653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:161651000-161653000	Weak transcription	Fetal Kidney	kidney
43	chr6:161651000-161653200	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:161651000-161653200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:161651000-161653600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:161651000-161653600	Weak transcription	Brain Anterior Caudate	brain
47	chr6:161651000-161653600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:161651000-161653600	Weak transcription	Ovary	ovary
49	chr6:161651000-161653800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:161651000-161654600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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