Variant report

Variant	esv3321568
Chromosome Location	chr6:150528559-150532857
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150520781..150525407-chr6:150526478..150529331,4	K562	blood:
2	chr6:150463574..150465134-chr6:150531593..150533755,2	K562	blood:
3	chr6:150527436..150531235-chr6:150531369..150534733,5	K562	blood:
4	chr6:150531888..150534706-chr6:150587953..150589817,2	K562	blood:
5	chr6:150521985..150525407-chr6:150525748..150528930,3	K562	blood:
6	chr6:150527436..150531235-chr6:150531369..150534733,5	K562	blood:
7	chr6:150463460..150465300-chr6:150528363..150530339,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198729	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552343522	chr6:150528578-150528579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575895974	chr6:150528581-150528582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544175017	chr6:150528586-150528587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56292304	chr6:150528587-150528588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537037344	chr6:150528592-150528593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550336573	chr6:150528611-150528612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142944052	chr6:150528621-150528622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58762286	chr6:150528624-150528625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187383188	chr6:150528632-150528633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4870370	chr6:150528633-150528634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368624679	chr6:150528634-150528635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146122027	chr6:150528644-150528645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535303804	chr6:150528651-150528652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555029445	chr6:150528735-150528736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9478580	chr6:150528784-150528785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543796306	chr6:150528788-150528789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371130147	chr6:150528789-150528790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563383425	chr6:150528802-150528803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62441160	chr6:150528882-150528883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546041401	chr6:150528891-150528892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539961110	chr6:150528908-150528909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140105419	chr6:150528911-150528912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143706997	chr6:150528932-150528933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566798443	chr6:150529041-150529042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7744115	chr6:150529051-150529052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530569661	chr6:150529084-150529085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529062748	chr6:150529087-150529088	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542452820	chr6:150529093-150529094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570412409	chr6:150529118-150529119	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1535147	chr6:150529122-150529123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539459099	chr6:150529128-150529129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546879023	chr6:150529129-150529130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562437777	chr6:150529151-150529152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146806468	chr6:150529152-150529153	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535616196	chr6:150529169-150529170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555319128	chr6:150529174-150529175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574866803	chr6:150529176-150529177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1535148	chr6:150529193-150529194	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557039826	chr6:150529223-150529224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576799772	chr6:150529230-150529231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117353764	chr6:150529232-150529233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559604809	chr6:150529250-150529251	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7755328	chr6:150529261-150529262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140457647	chr6:150529286-150529287	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571352325	chr6:150529326-150529327	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530544496	chr6:150529332-150529333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531134810	chr6:150529379-150529380	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529837110	chr6:150529395-150529396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532245395	chr6:150529396-150529397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10595242	chr6:150529408-150529409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150517600-150529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:150518200-150530800	Enhancers	Fetal Heart	heart
3	chr6:150524000-150532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:150525200-150528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150525200-150529000	Weak transcription	HMEC	breast
6	chr6:150525400-150528600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:150525400-150533400	Weak transcription	Right Atrium	heart
8	chr6:150526200-150529000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:150526400-150528800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:150526400-150529200	Weak transcription	Osteobl	bone
11	chr6:150526600-150529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:150526600-150529000	Weak transcription	Left Ventricle	heart
13	chr6:150526600-150529400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:150526600-150531200	Weak transcription	Spleen	Spleen
15	chr6:150526600-150532400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:150526600-150541800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:150526800-150530600	Weak transcription	K562	blood
18	chr6:150527400-150530200	Weak transcription	Right Ventricle	heart
19	chr6:150528200-150531400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:150528400-150528600	Enhancers	Psoas Muscle	Psoas
21	chr6:150528400-150530400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:150528400-150530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:150528400-150530800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:150528400-150530800	Enhancers	NHEK	skin
25	chr6:150528600-150529000	Weak transcription	Psoas Muscle	Psoas
26	chr6:150528600-150530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:150528600-150530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:150528600-150531400	Enhancers	Fetal Brain Male	brain
29	chr6:150528800-150530200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:150529000-150529400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:150529000-150529800	Enhancers	Left Ventricle	heart
32	chr6:150529000-150530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:150529000-150530000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:150529000-150530000	Enhancers	NH-A	brain
35	chr6:150529000-150530200	Enhancers	Psoas Muscle	Psoas
36	chr6:150529000-150530200	Enhancers	HMEC	breast
37	chr6:150529000-150530400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:150529000-150530600	Enhancers	HSMM	muscle
39	chr6:150529000-150530800	Enhancers	HSMMtube	muscle
40	chr6:150529200-150529600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:150529200-150530000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:150529200-150530000	Enhancers	Osteobl	bone
43	chr6:150529200-150530600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:150529200-150530600	Enhancers	Fetal Muscle Leg	muscle
45	chr6:150529200-150530800	Enhancers	Fetal Brain Female	brain
46	chr6:150529400-150529600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:150529400-150530200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:150529400-150530200	Enhancers	Brain Germinal Matrix	brain
49	chr6:150529400-150531200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:150529600-150530000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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