Variant report

Variant	esv989053
Chromosome Location	chr11:76027846-76039082
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:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75919537..75920594-chr11:76028825..76030444,6	MCF-7	breast:
2	chr11:75578959..75579490-chr11:76029607..76030437,2	MCF-7	breast:
3	chr11:75918335..75919414-chr11:76029518..76030460,11	K562	blood:
4	chr11:76030099..76031933-chr11:76048238..76050183,2	K562	blood:
5	chr11:75607614..75608274-chr11:76029558..76030238,2	MCF-7	breast:
6	chr11:75918308..75919483-chr11:76029559..76030293,4	MCF-7	breast:
7	chr11:75864249..75865220-chr11:76029478..76030050,2	MCF-7	breast:
8	chr11:75919626..75920483-chr11:76029554..76030079,2	K562	blood:
9	chr11:75918322..75919263-chr11:76029385..76030419,7	MCF-7	breast:
10	chr11:75514094..75514982-chr11:76029520..76030024,2	MCF-7	breast:
11	chr11:76025405..76027275-chr11:76028551..76031168,2	MCF-7	breast:
12	chr11:76029598..76030351-chr3:64009140..64009722,2	MCF-7	breast:
13	chr11:75513939..75514494-chr11:76029429..76030070,2	K562	blood:
14	chr11:75862929..75863882-chr11:76029395..76030079,4	K562	blood:
15	chr11:75924146..75926385-chr11:76032779..76035393,2	MCF-7	breast:
16	chr11:75919338..75920436-chr11:76029517..76030609,7	MCF-7	breast:
17	chr11:75918736..75920705-chr11:76028307..76032444,3	MCF-7	breast:
18	chr11:75607508..75608561-chr11:76029521..76030484,5	K562	blood:
19	chr11:75857248..75857816-chr11:76029548..76030103,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-111M22.2.1-2	chr11:76031524-76032126	NONHSAT023162

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions
ENSG00000254814	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371236329	chr11:76027900-76027901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548971092	chr11:76027929-76027930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537067136	chr11:76027933-76027934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs745870	chr11:76027936-76027937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs376319864	chr11:76027957-76027958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139938613	chr11:76027963-76027964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs36040138	chr11:76027966-76027967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189890528	chr11:76027980-76027981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555591603	chr11:76027981-76027982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182168420	chr11:76027993-76027994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149864674	chr11:76028024-76028025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529693690	chr11:76028035-76028036	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs541630566	chr11:76028038-76028039	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs185660106	chr11:76028053-76028054	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs537299926	chr11:76028057-76028058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs543530047	chr11:76028066-76028067	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs559888448	chr11:76028132-76028133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs563313219	chr11:76028197-76028198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs573676701	chr11:76028219-76028220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs559959630	chr11:76028249-76028250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs543347027	chr11:76028274-76028275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs559955387	chr11:76028275-76028276	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112815513	chr11:76028276-76028277	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs551920539	chr11:76028296-76028297	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs181284698	chr11:76028381-76028382	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs185199774	chr11:76028426-76028427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs145457154	chr11:76028450-76028451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs115056394	chr11:76028462-76028463	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs567328846	chr11:76028512-76028513	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs542369880	chr11:76028529-76028530	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs377533107	chr11:76028541-76028542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549024934	chr11:76028559-76028560	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148412507	chr11:76028573-76028574	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs534592500	chr11:76028627-76028628	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs191089274	chr11:76028663-76028664	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs571457081	chr11:76028736-76028737	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs144031708	chr11:76028788-76028789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs374794133	chr11:76028798-76028799	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs11236702	chr11:76028831-76028832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146446178	chr11:76028863-76028864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183806839	chr11:76028881-76028882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553410623	chr11:76028887-76028888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573507340	chr11:76028966-76028967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545360416	chr11:76028967-76028968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11236703	chr11:76028978-76028979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140917699	chr11:76028992-76028993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11236704	chr11:76028993-76028994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561015666	chr11:76029009-76029010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537272907	chr11:76029034-76029035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528434438	chr11:76029100-76029101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76025400-76029800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:76025800-76028400	Weak transcription	Hela-S3	cervix
3	chr11:76025800-76029200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:76025800-76031200	Weak transcription	Placenta	Placenta
5	chr11:76026000-76028400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:76026200-76029400	Weak transcription	Fetal Lung	lung
7	chr11:76027000-76032800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:76027600-76029200	Enhancers	Liver	Liver
9	chr11:76027800-76028600	Enhancers	HepG2	liver
10	chr11:76027800-76029000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:76028000-76028800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:76028400-76028800	Enhancers	Adipose Nuclei	Adipose
13	chr11:76028400-76028800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:76028400-76028800	Enhancers	Hela-S3	cervix
15	chr11:76028400-76030600	Enhancers	Pancreas	Pancrea
16	chr11:76028800-76029800	Weak transcription	Adipose Nuclei	Adipose
17	chr11:76028800-76033400	Weak transcription	Hela-S3	cervix
18	chr11:76029200-76029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:76029600-76029800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:76029600-76030200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:76029600-76030200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:76029600-76030200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:76029800-76030000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:76029800-76030000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:76029800-76030000	Enhancers	Adipose Nuclei	Adipose
26	chr11:76029800-76030000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:76029800-76030000	Enhancers	Fetal Lung	lung
28	chr11:76029800-76030000	Enhancers	Gastric	stomach
29	chr11:76029800-76030000	Enhancers	Right Ventricle	heart
30	chr11:76029800-76030000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr11:76029800-76030200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr11:76029800-76030200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr11:76029800-76032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:76030000-76030200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr11:76030600-76031000	Weak transcription	Pancreas	Pancrea
36	chr11:76031000-76031200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr11:76031000-76031800	Enhancers	Pancreas	Pancrea
38	chr11:76031200-76031400	Enhancers	Placenta	Placenta
39	chr11:76031200-76031400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr11:76031400-76032800	Weak transcription	Placenta	Placenta
41	chr11:76031600-76031800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:76031600-76032800	Weak transcription	Right Ventricle	heart
43	chr11:76031800-76032200	Active TSS	Pancreas	Pancrea
44	chr11:76032000-76032200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr11:76032200-76032400	Flanking Active TSS	Pancreas	Pancrea
46	chr11:76032200-76032600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr11:76032200-76032600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
48	chr11:76032200-76032600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr11:76032200-76032600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:76032200-76032600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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