Variant report

Variant	esv3337008
Chromosome Location	chr6:121363624-121370054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 241 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533234051	chr6:121363638-121363639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138535838	chr6:121363727-121363728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576129734	chr6:121363728-121363729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538667467	chr6:121363772-121363773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113871798	chr6:121363776-121363777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371948372	chr6:121363782-121363783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185053319	chr6:121363806-121363807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572743722	chr6:121363850-121363851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541218039	chr6:121363902-121363903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541929950	chr6:121363907-121363908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574558072	chr6:121363919-121363920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543529530	chr6:121363934-121363935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563467366	chr6:121363976-121363977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532353872	chr6:121364000-121364001	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552579970	chr6:121364076-121364077	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551678980	chr6:121364094-121364095	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375253534	chr6:121364127-121364128	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565031697	chr6:121364143-121364144	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4945675	chr6:121364149-121364150	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74827166	chr6:121364192-121364193	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77190117	chr6:121364197-121364198	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548953479	chr6:121364241-121364242	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190742732	chr6:121364258-121364259	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182029910	chr6:121364262-121364263	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569802767	chr6:121364272-121364273	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538630689	chr6:121364353-121364354	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376824580	chr6:121364355-121364356	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185229330	chr6:121364397-121364398	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572610057	chr6:121364431-121364432	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535342391	chr6:121364437-121364438	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554836942	chr6:121364479-121364480	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574666707	chr6:121364497-121364498	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543640270	chr6:121364510-121364511	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540968545	chr6:121364568-121364569	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148137225	chr6:121364585-121364586	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368987050	chr6:121364593-121364594	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537555067	chr6:121364664-121364665	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559708478	chr6:121364695-121364696	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527559560	chr6:121364698-121364699	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189699600	chr6:121364723-121364724	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564363084	chr6:121364724-121364725	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141970114	chr6:121364771-121364772	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529900314	chr6:121364772-121364773	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180682729	chr6:121364823-121364824	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569719126	chr6:121364853-121364854	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185512752	chr6:121364855-121364856	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150686960	chr6:121364864-121364865	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112385673	chr6:121364916-121364917	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11965545	chr6:121364920-121364921	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189977100	chr6:121364998-121364999	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Cancer	20164920	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
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121359000-121364000	Weak transcription	Pancreas	Pancrea
2	chr6:121362200-121364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:121363000-121364400	Enhancers	Stomach Mucosa	stomach
4	chr6:121363000-121364800	Enhancers	Placenta	Placenta
5	chr6:121363400-121364800	Enhancers	Fetal Intestine Large	intestine
6	chr6:121364000-121364400	Active TSS	Brain Substantia Nigra	brain
7	chr6:121364000-121364400	Enhancers	Pancreas	Pancrea
8	chr6:121364000-121364600	Enhancers	Fetal Intestine Small	intestine
9	chr6:121364000-121365000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:121364400-121365000	Flanking Active TSS	Pancreas	Pancrea
11	chr6:121364400-121365400	Enhancers	Liver	Liver
12	chr6:121364400-121365400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:121364400-121365400	Weak transcription	Stomach Mucosa	stomach
14	chr6:121364600-121364800	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr6:121364600-121365000	Active TSS	Duodenum Mucosa	Duodenum
16	chr6:121364600-121365400	Enhancers	HepG2	liver
17	chr6:121364800-121365000	Active TSS	Fetal Intestine Small	intestine
18	chr6:121364800-121365400	Active TSS	Fetal Stomach	stomach
19	chr6:121364800-121365600	Weak transcription	Fetal Intestine Large	intestine
20	chr6:121364800-121369600	Weak transcription	Placenta	Placenta
21	chr6:121365000-121365200	Enhancers	Fetal Intestine Small	intestine
22	chr6:121365200-121365400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:121365200-121365600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:121365400-121365800	Enhancers	Fetal Intestine Small	intestine
25	chr6:121365400-121365800	Active TSS	Stomach Mucosa	stomach
26	chr6:121365400-121366800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:121365600-121365800	Enhancers	Fetal Intestine Large	intestine
28	chr6:121365800-121369600	Weak transcription	Stomach Mucosa	stomach
29	chr6:121369400-121369800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:121369400-121369800	Enhancers	NHEK	skin
31	chr6:121369400-121370600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:121369600-121369800	Enhancers	Stomach Mucosa	stomach
33	chr6:121369600-121370000	Enhancers	Placenta	Placenta
34	chr6:121369800-121370200	Weak transcription	Stomach Mucosa	stomach
35	chr6:121369800-121370200	Weak transcription	NHEK	skin
36	chr6:121369800-121370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:121369800-121370600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:121370000-121370200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links