Variant report

Variant	nsv5577
Chromosome Location	chr6:161775026-161819733
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
2	chr6:161772837..161774713-chr6:161777546..161779588,2	K562	blood:
3	chr6:161170784..161171753-chr6:161794646..161795782,4	MCF-7	breast:
4	chr6:161773977..161774930-chr6:161791896..161792486,2	MCF-7	breast:
5	chr6:161152558..161155557-chr6:161793126..161797169,4	K562	blood:
6	chr6:161735875..161738594-chr6:161777466..161779165,2	K562	blood:
7	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
8	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
9	chr6:161554160..161557722-chr6:161792909..161795003,3	K562	blood:
10	chr6:161574028..161575026-chr6:161794391..161795585,3	MCF-7	breast:
11	chr6:161520839..161521632-chr6:161791602..161792128,2	MCF-7	breast:
12	chr16:33964976..33965587-chr6:161803175..161803675,2	MCF-7	breast:
13	chr6:161804155..161807425-chr6:161808233..161811077,5	K562	blood:
14	chr6:161561088..161561843-chr6:161794669..161795618,3	K562	blood:
15	chr6:161171318..161172128-chr6:161791567..161792523,2	K562	blood:
16	chr6:161520982..161521822-chr6:161791879..161792471,2	MCF-7	breast:
17	chr6:161566087..161569641-chr6:161785856..161789665,3	K562	blood:
18	chr6:161153756..161154634-chr6:161794865..161795506,2	K562	blood:
19	chr6:161152558..161154302-chr6:161794607..161797169,2	K562	blood:
20	chr6:161522442..161523249-chr6:161791588..161792354,3	K562	blood:
21	chr6:161774851..161778239-chr6:161778707..161783071,5	K562	blood:
22	chr6:161170865..161172640-chr6:161793998..161795799,2	MCF-7	breast:
23	chr6:161793225..161794761-chr6:161807583..161809833,2	K562	blood:
24	chr6:161804155..161807425-chr6:161808233..161811077,5	K562	blood:
25	chr6:161618614..161620320-chr6:161789402..161791597,2	K562	blood:
26	chr6:161736006..161736599-chr6:161794590..161795509,2	K562	blood:
27	chr6:161774851..161778239-chr6:161778707..161783071,5	K562	blood:
28	chr6:161695256..161697012-chr6:161781193..161782822,2	K562	blood:
29	chr6:161809042..161810655-chr6:161813271..161814976,2	MCF-7	breast:
30	chr6:161774090..161774640-chr6:161794629..161795193,2	K562	blood:
31	chr6:161774110..161774649-chr6:161791891..161792645,2	MCF-7	breast:
32	chr6:161521066..161521786-chr6:161794667..161795242,2	K562	blood:
33	chr6:161554722..161557722-chr6:161792909..161795003,3	K562	blood:
34	chr6:161522473..161523030-chr6:161794735..161795520,2	MCF-7	breast:
35	chr6:161582457..161584004-chr6:161799763..161802627,2	K562	blood:
36	chr6:161573838..161574648-chr6:161791007..161792492,6	MCF-7	breast:
37	chr6:161793225..161794761-chr6:161807583..161809833,2	K562	blood:
38	chr6:161602544..161603046-chr6:161794558..161795538,2	K562	blood:
39	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
40	chr6:161809042..161810655-chr6:161813271..161814976,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200434	chromatin interactions

Extended variants
information (count: 1832 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554078285	chr6:161775101-161775102	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs145958401	chr6:161775149-161775150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545549731	chr6:161775189-161775190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs199868828	chr6:161775207-161775208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78044257	chr6:161775288-161775289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190601896	chr6:161775300-161775301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139875888	chr6:161775415-161775416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9458232	chr6:161775436-161775437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117526904	chr6:161775644-161775645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146377300	chr6:161775652-161775653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564759371	chr6:161775707-161775708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9458233	chr6:161775726-161775727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565727255	chr6:161775763-161775764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143470498	chr6:161775770-161775771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550369006	chr6:161775776-161775777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148585568	chr6:161775777-161775778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535935047	chr6:161775810-161775811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549525159	chr6:161775847-161775848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565935830	chr6:161775905-161775906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534978572	chr6:161775921-161775922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557872817	chr6:161775922-161775923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183414122	chr6:161775924-161775925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539366629	chr6:161775930-161775931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555924253	chr6:161775949-161775950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556957583	chr6:161775961-161775962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541522938	chr6:161775968-161775969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376401464	chr6:161775990-161775991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561860016	chr6:161776063-161776064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572054858	chr6:161776145-161776146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11759471	chr6:161776151-161776152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536495998	chr6:161776157-161776158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540974296	chr6:161776162-161776163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563948076	chr6:161776182-161776183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570688020	chr6:161776193-161776194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533630379	chr6:161776194-161776195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548141302	chr6:161776197-161776198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71567604	chr6:161776204-161776205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369925025	chr6:161776239-161776240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370393480	chr6:161776243-161776244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115617560	chr6:161776308-161776309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151119820	chr6:161776388-161776389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62435871	chr6:161776408-161776409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555447415	chr6:161776428-161776429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372428861	chr6:161776446-161776447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs118125712	chr6:161776456-161776457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534832341	chr6:161776457-161776458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576946811	chr6:161776498-161776499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139674315	chr6:161776500-161776501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571587445	chr6:161776547-161776548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189098507	chr6:161776550-161776551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161763400-161782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:161771400-161780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161773200-161776000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:161773200-161776000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:161774000-161775800	Enhancers	Placenta	Placenta
6	chr6:161774200-161775200	Enhancers	Brain Angular Gyrus	brain
7	chr6:161774200-161775200	Enhancers	Brain Anterior Caudate	brain
8	chr6:161774200-161775800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:161774600-161775200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:161774800-161775200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:161774800-161775400	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:161774800-161775600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:161774800-161775600	Enhancers	Fetal Muscle Leg	muscle
14	chr6:161775000-161775200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:161775000-161775200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr6:161775000-161775200	Enhancers	Fetal Heart	heart
17	chr6:161775000-161775600	Enhancers	Brain Hippocampus Middle	brain
18	chr6:161775000-161776200	Enhancers	HSMMtube	muscle
19	chr6:161775000-161777400	Weak transcription	K562	blood
20	chr6:161775200-161775600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:161775200-161775600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:161775200-161775600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:161775200-161777400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:161775200-161780200	Weak transcription	Brain Angular Gyrus	brain
25	chr6:161775200-161780200	Weak transcription	Fetal Heart	heart
26	chr6:161775200-161784200	Weak transcription	Brain Anterior Caudate	brain
27	chr6:161775400-161775800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:161775400-161781800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:161775600-161775800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:161775600-161776000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:161775600-161776000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:161775600-161780200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:161775800-161777000	Weak transcription	Placenta	Placenta
34	chr6:161775800-161777400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:161775800-161780400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:161776000-161776200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:161776000-161776200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:161776000-161776600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:161776000-161777600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:161776200-161777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:161776200-161777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:161776200-161780200	Weak transcription	HSMMtube	muscle
43	chr6:161776600-161778000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:161776800-161777400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:161777000-161777400	Enhancers	Spleen	Spleen
46	chr6:161777000-161778000	Enhancers	Placenta	Placenta
47	chr6:161777000-161778400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:161777200-161777400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:161777200-161777400	Enhancers	Pancreas	Pancrea
50	chr6:161777200-161777600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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