Variant report

Variant	esv3432329
Chromosome Location	chr6:121895353-121897601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372282987	chr6:121895353-121895354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4946579	chr6:121895398-121895399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530437097	chr6:121895432-121895433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149456996	chr6:121895447-121895448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544434662	chr6:121895484-121895485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9401415	chr6:121895524-121895525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189927462	chr6:121895529-121895530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182067271	chr6:121895565-121895566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560595934	chr6:121895622-121895623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529313041	chr6:121895704-121895705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111612799	chr6:121895793-121895794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143003770	chr6:121895799-121895800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376969623	chr6:121895814-121895815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374433499	chr6:121895822-121895823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530849658	chr6:121895832-121895833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183810164	chr6:121895837-121895838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148196142	chr6:121895838-121895839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533118567	chr6:121895842-121895843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115609836	chr6:121895907-121895908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566556571	chr6:121895917-121895918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535129981	chr6:121896064-121896065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200145697	chr6:121896066-121896067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370800754	chr6:121896078-121896079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568727792	chr6:121896123-121896124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188579544	chr6:121896148-121896149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181322220	chr6:121896155-121896156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369626785	chr6:121896236-121896237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374260280	chr6:121896237-121896238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377645850	chr6:121896240-121896241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370748510	chr6:121896245-121896246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373297749	chr6:121896250-121896251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71018145	chr6:121896286-121896287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376244141	chr6:121896287-121896288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370642770	chr6:121896293-121896294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs68075793	chr6:121896297-121896298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373682123	chr6:121896306-121896307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13218189	chr6:121896307-121896308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11320818	chr6:121896308-121896309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377424844	chr6:121896316-121896317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13202026	chr6:121896318-121896319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185060001	chr6:121896335-121896336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370314402	chr6:121896337-121896338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374612002	chr6:121896343-121896344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13218205	chr6:121896344-121896345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13202038	chr6:121896345-121896346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10630725	chr6:121896351-121896352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386408451	chr6:121896353-121896354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111381773	chr6:121896377-121896378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13218290	chr6:121896380-121896381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112551488	chr6:121896383-121896384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121892400-121895800	Enhancers	Fetal Intestine Large	intestine
2	chr6:121892800-121895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:121892800-121896000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:121893600-121895800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:121893800-121895400	Enhancers	Small Intestine	intestine
6	chr6:121893800-121895600	Enhancers	Fetal Intestine Small	intestine
7	chr6:121894200-121895800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:121894400-121895600	Enhancers	Hela-S3	cervix
9	chr6:121894400-121895600	Enhancers	Osteobl	bone
10	chr6:121894400-121895800	Enhancers	HUVEC	blood vessel
11	chr6:121894600-121895400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:121894600-121895400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:121894600-121895400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:121894600-121895400	Enhancers	NH-A	brain
15	chr6:121894600-121895600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:121894600-121895600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:121894600-121895800	Enhancers	Ovary	ovary
18	chr6:121894800-121895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:121894800-121895600	Enhancers	Dnd41	blood
20	chr6:121894800-121895800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:121895000-121895400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:121895000-121895400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:121895000-121895400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:121895000-121895400	Enhancers	Aorta	Aorta
25	chr6:121895000-121895400	Enhancers	NHDF-Ad	bronchial
26	chr6:121895000-121895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:121895000-121895600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:121895000-121895800	Enhancers	Left Ventricle	heart
29	chr6:121895200-121895600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:121895200-121895600	Enhancers	Adipose Nuclei	Adipose
31	chr6:121895200-121895600	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:121895200-121895600	Enhancers	Placenta	Placenta
33	chr6:121895200-121895600	Enhancers	Lung	lung
34	chr6:121895200-121895600	Enhancers	Right Atrium	heart
35	chr6:121895200-121895600	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:121895200-121895600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:121895200-121895800	Enhancers	Brain Substantia Nigra	brain
38	chr6:121895200-121895800	Enhancers	Right Ventricle	heart
39	chr6:121895200-121896000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:121895400-121895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:121895400-121899800	Weak transcription	Small Intestine	intestine
42	chr6:121895400-121905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:121895600-121895800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:121895800-121896600	Weak transcription	Fetal Intestine Large	intestine
45	chr6:121895800-121898800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:121895800-121902400	Weak transcription	Ovary	ovary
47	chr6:121895800-121905400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:121896000-121898800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:121896600-121897000	Enhancers	Fetal Intestine Large	intestine
50	chr6:121897000-121897200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links