Variant report

Variant	esv3386397
Chromosome Location	chr6:161689390-161689833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161689546..161691232-chr6:161766488..161768941,2	K562	blood:
2	chr6:161688341..161690603-chr6:161735009..161737398,2	K562	blood:
3	chr6:161535825..161538708-chr6:161688677..161691467,2	K562	blood:
4	chr6:161623919..161626414-chr6:161687657..161690363,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35770438	chr6:161689418-161689419	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117327712	chr6:161689422-161689423	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35071579	chr6:161689435-161689436	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557865076	chr6:161689436-161689437	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79926662	chr6:161689474-161689475	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543552283	chr6:161689549-161689550	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556637018	chr6:161689593-161689594	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143341383	chr6:161689594-161689595	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542943303	chr6:161689624-161689625	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111474409	chr6:161689626-161689627	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528642690	chr6:161689655-161689656	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75986527	chr6:161689677-161689678	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369343114	chr6:161689681-161689682	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3798952	chr6:161689756-161689757	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201386650	chr6:161689812-161689813	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs150991295	chr6:161689813-161689814	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs3798953	chr6:161689816-161689817	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs386409158	chr6:161689817-161689818	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3839454	chr6:161689827-161689828	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs180974074	chr6:161689830-161689831	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	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
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

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161638200-161693800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:161649600-161693800	Weak transcription	Right Atrium	heart
3	chr6:161653800-161693800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:161657600-161693600	Weak transcription	Left Ventricle	heart
5	chr6:161664800-161689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:161664800-161693800	Weak transcription	HSMM	muscle
7	chr6:161665000-161693600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:161665200-161692600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:161666400-161692600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:161666800-161694200	Weak transcription	Aorta	Aorta
11	chr6:161670800-161692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:161671200-161689400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:161672800-161694200	Weak transcription	Lung	lung
14	chr6:161672800-161694200	Weak transcription	Right Ventricle	heart
15	chr6:161674000-161692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:161676000-161693800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:161676200-161694000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:161676600-161692800	Weak transcription	Fetal Lung	lung
19	chr6:161677200-161692200	Weak transcription	Spleen	Spleen
20	chr6:161677600-161690400	Weak transcription	Fetal Brain Male	brain
21	chr6:161678200-161693600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:161678600-161694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:161678800-161693600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:161678800-161694000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:161679400-161692400	Weak transcription	Fetal Heart	heart
26	chr6:161679400-161692800	Weak transcription	NHDF-Ad	bronchial
27	chr6:161679600-161692000	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:161679800-161689400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:161679800-161693600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:161680200-161693800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:161680200-161693800	Weak transcription	Small Intestine	intestine
32	chr6:161681000-161693800	Weak transcription	HMEC	breast
33	chr6:161681000-161694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:161681200-161693200	Weak transcription	HUVEC	blood vessel
35	chr6:161681200-161693600	Weak transcription	NHLF	lung
36	chr6:161681400-161692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:161681600-161692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:161682200-161692200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:161682400-161692600	Weak transcription	NH-A	brain
40	chr6:161683000-161693200	Weak transcription	NHEK	skin
41	chr6:161685200-161689400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:161685800-161693000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:161686200-161689600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:161686200-161690600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:161686200-161693800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:161686600-161691800	Enhancers	Brain Hippocampus Middle	brain
47	chr6:161686800-161691600	Enhancers	Brain Substantia Nigra	brain
48	chr6:161687000-161691200	Enhancers	Brain Angular Gyrus	brain
49	chr6:161687200-161692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:161687400-161690400	Weak transcription	Esophagus	oesophagus

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