Variant report

Variant	esv2311013
Chromosome Location	chr6:161683941-161684350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161671070..161673018-chr6:161681937..161684753,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552061565	chr6:161683952-161683953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565092695	chr6:161683953-161683954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6926382	chr6:161683974-161683975	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550649080	chr6:161683975-161683976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567451846	chr6:161684006-161684007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181910929	chr6:161684027-161684028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78560665	chr6:161684036-161684037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532919207	chr6:161684101-161684102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546648849	chr6:161684110-161684111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546712875	chr6:161684131-161684132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534572520	chr6:161684133-161684134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386707926	chr6:161684134-161684135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79611061	chr6:161684136-161684137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374803300	chr6:161684137-161684138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375933803	chr6:161684138-161684139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370536315	chr6:161684139-161684140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373656348	chr6:161684140-161684141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573754170	chr6:161684204-161684205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138871211	chr6:161684235-161684236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143725668	chr6:161684237-161684238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141848595	chr6:161684238-161684239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572802244	chr6:161684298-161684299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:101 , 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	chr6:161659400-161687200	Weak transcription	Esophagus	oesophagus
6	chr6:161664800-161688000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:161664800-161689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:161664800-161693800	Weak transcription	HSMM	muscle
9	chr6:161665000-161693600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:161665200-161692600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:161666400-161692600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:161666800-161694200	Weak transcription	Aorta	Aorta
13	chr6:161667000-161684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:161670800-161692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:161671200-161689400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:161672800-161694200	Weak transcription	Lung	lung
17	chr6:161672800-161694200	Weak transcription	Right Ventricle	heart
18	chr6:161674000-161692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:161676000-161693800	Weak transcription	Adipose Nuclei	Adipose
20	chr6:161676200-161686800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:161676200-161694000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:161676600-161692800	Weak transcription	Fetal Lung	lung
23	chr6:161677200-161692200	Weak transcription	Spleen	Spleen
24	chr6:161677600-161690400	Weak transcription	Fetal Brain Male	brain
25	chr6:161677800-161687600	Weak transcription	Ovary	ovary
26	chr6:161678200-161693600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:161678600-161687000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:161678600-161694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:161678800-161693600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:161678800-161694000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:161679400-161692400	Weak transcription	Fetal Heart	heart
32	chr6:161679400-161692800	Weak transcription	NHDF-Ad	bronchial
33	chr6:161679600-161686000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:161679600-161692000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:161679800-161687000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:161679800-161687000	Weak transcription	Osteobl	bone
37	chr6:161679800-161687200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:161679800-161689400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:161679800-161693600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:161680200-161687400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:161680200-161693800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:161680200-161693800	Weak transcription	Small Intestine	intestine
43	chr6:161680400-161684000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:161680400-161684000	Strong transcription	Brain Germinal Matrix	brain
45	chr6:161680400-161685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:161680400-161685800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:161680400-161686200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:161680400-161686400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:161680400-161687400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:161680400-161687600	Strong transcription	Fetal Muscle Leg	muscle

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