Variant report

Variant	nsv886593
Chromosome Location	chr6:121362591-121414770
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:121399181..121401952-chr6:121402264..121404345,2	K562	blood:
2	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:
3	chr6:121376435..121377426-chr6:121544734..121545558,2	MCF-7	breast:
4	chr6:121376109..121377626-chr6:121543516..121544370,7	MCF-7	breast:
5	chr6:121412403..121414647-chr6:121418696..121420931,2	K562	blood:
6	chr6:121376496..121377369-chr6:121557870..121558396,2	MCF-7	breast:
7	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
8	chr6:121399181..121401952-chr6:121402264..121404345,2	K562	blood:
9	chr6:121377193..121378906-chr6:121509031..121511609,2	MCF-7	breast:
10	chr6:121376484..121377440-chr6:121626832..121627562,3	MCF-7	breast:
11	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:
12	chr6:121411153..121412968-chr6:121418070..121419760,2	MCF-7	breast:
13	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
14	chr6:121376879..121377380-chr6:121543841..121544431,2	K562	blood:
15	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:
16	chr6:121400057..121403003-chr6:121403745..121405643,2	K562	blood:
17	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
18	chr6:121376783..121377622-chr6:121626950..121627772,3	MCF-7	breast:
19	chr6:121376454..121377382-chr6:121626851..121627812,5	K562	blood:
20	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
21	chr6:121376496..121377167-chr6:121721914..121722620,2	K562	blood:
22	chr6:121400057..121403003-chr6:121403745..121405643,2	K562	blood:
23	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146350	chromatin interactions

Extended variants
information (count: 1449 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1449 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2358134	chr6:121362591-121362592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573533412	chr6:121362685-121362686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542677696	chr6:121362701-121362702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563167104	chr6:121362740-121362741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532093075	chr6:121362758-121362759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184177298	chr6:121362807-121362808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537845762	chr6:121362847-121362848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555744101	chr6:121362858-121362859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527752435	chr6:121362859-121362860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2019215	chr6:121362875-121362876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567777106	chr6:121362902-121362903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530031563	chr6:121362904-121362905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549808973	chr6:121362969-121362970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545312887	chr6:121362985-121362986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145471002	chr6:121363010-121363011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535056670	chr6:121363011-121363012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557492423	chr6:121363022-121363023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188508861	chr6:121363100-121363101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534018064	chr6:121363101-121363102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553569680	chr6:121363138-121363139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573723115	chr6:121363180-121363181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530959294	chr6:121363186-121363187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59106061	chr6:121363197-121363198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556200602	chr6:121363236-121363237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113174920	chr6:121363241-121363242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576772407	chr6:121363252-121363253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545732090	chr6:121363260-121363261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150374195	chr6:121363326-121363327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138114121	chr6:121363334-121363335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541646157	chr6:121363363-121363364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140780098	chr6:121363375-121363376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144624937	chr6:121363389-121363390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182034623	chr6:121363398-121363399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569730224	chr6:121363422-121363423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556316396	chr6:121363426-121363427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531471179	chr6:121363441-121363442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376252257	chr6:121363480-121363481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531712054	chr6:121363511-121363512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543757891	chr6:121363514-121363515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551238009	chr6:121363515-121363516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571549500	chr6:121363554-121363555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371918175	chr6:121363565-121363566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201472231	chr6:121363569-121363570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553981758	chr6:121363577-121363578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565293761	chr6:121363581-121363582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28863906	chr6:121363599-121363600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567205367	chr6:121363620-121363621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533234051	chr6:121363638-121363639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138535838	chr6:121363727-121363728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576129734	chr6:121363728-121363729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121359000-121363000	Weak transcription	Stomach Mucosa	stomach
2	chr6:121359000-121364000	Weak transcription	Pancreas	Pancrea
3	chr6:121362200-121364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:121363000-121364400	Enhancers	Stomach Mucosa	stomach
5	chr6:121363000-121364800	Enhancers	Placenta	Placenta
6	chr6:121363400-121364800	Enhancers	Fetal Intestine Large	intestine
7	chr6:121364000-121364400	Active TSS	Brain Substantia Nigra	brain
8	chr6:121364000-121364400	Enhancers	Pancreas	Pancrea
9	chr6:121364000-121364600	Enhancers	Fetal Intestine Small	intestine
10	chr6:121364000-121365000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:121364400-121365000	Flanking Active TSS	Pancreas	Pancrea
12	chr6:121364400-121365400	Enhancers	Liver	Liver
13	chr6:121364400-121365400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:121364400-121365400	Weak transcription	Stomach Mucosa	stomach
15	chr6:121364600-121364800	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr6:121364600-121365000	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:121364600-121365400	Enhancers	HepG2	liver
18	chr6:121364800-121365000	Active TSS	Fetal Intestine Small	intestine
19	chr6:121364800-121365400	Active TSS	Fetal Stomach	stomach
20	chr6:121364800-121365600	Weak transcription	Fetal Intestine Large	intestine
21	chr6:121364800-121369600	Weak transcription	Placenta	Placenta
22	chr6:121365000-121365200	Enhancers	Fetal Intestine Small	intestine
23	chr6:121365200-121365400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:121365200-121365600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:121365400-121365800	Enhancers	Fetal Intestine Small	intestine
26	chr6:121365400-121365800	Active TSS	Stomach Mucosa	stomach
27	chr6:121365400-121366800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:121365600-121365800	Enhancers	Fetal Intestine Large	intestine
29	chr6:121365800-121369600	Weak transcription	Stomach Mucosa	stomach
30	chr6:121369400-121369800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:121369400-121369800	Enhancers	NHEK	skin
32	chr6:121369400-121370600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:121369600-121369800	Enhancers	Stomach Mucosa	stomach
34	chr6:121369600-121370000	Enhancers	Placenta	Placenta
35	chr6:121369800-121370200	Weak transcription	Stomach Mucosa	stomach
36	chr6:121369800-121370200	Weak transcription	NHEK	skin
37	chr6:121369800-121370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:121369800-121370600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:121370000-121370200	Weak transcription	Placenta	Placenta
40	chr6:121370200-121370600	Enhancers	Placenta	Placenta
41	chr6:121370200-121370600	Enhancers	Stomach Mucosa	stomach
42	chr6:121370200-121370800	Enhancers	NHEK	skin
43	chr6:121370600-121372200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:121377000-121378000	Enhancers	Liver	Liver
45	chr6:121381600-121382200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:121386400-121390200	Weak transcription	Aorta	Aorta
47	chr6:121386800-121390200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:121388000-121390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:121389800-121390600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr6:121390000-121390800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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