Variant report

Variant	esv3332513
Chromosome Location	chr11:76533354-76535352
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76497234..76499501-chr11:76534793..76537709,2	K562	blood:
2	chr11:76493947..76496301-chr11:76534591..76536584,2	MCF-7	breast:
3	chr11:76531797..76536472-chr11:76570745..76574159,6	MCF-7	breast:
4	chr11:76529538..76531213-chr11:76532153..76533860,2	MCF-7	breast:
5	chr11:76497529..76499535-chr11:76534642..76536244,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC32-7	chr11:76533882-76533983	NONHSAT023194
2	lnc-LRRC32-7	chr11:76534468-76534868	NONHSAT023194

No data

Variant related genes	Relation type
ENSG00000078124	chromatin interactions
ENSG00000255100	chromatin interactions
ENSG00000182704	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112453530	chr11:76533407-76533408	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142448347	chr11:76533425-76533426	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147947340	chr11:76533463-76533464	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562467052	chr11:76533479-76533480	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531214616	chr11:76533531-76533532	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80175079	chr11:76533551-76533552	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561490503	chr11:76533577-76533578	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527472296	chr11:76533601-76533602	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117286369	chr11:76533603-76533604	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79261234	chr11:76533662-76533663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112474280	chr11:76533679-76533680	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576550450	chr11:76533689-76533690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35317903	chr11:76533754-76533755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549823632	chr11:76533763-76533764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34766469	chr11:76533790-76533791	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7948381	chr11:76533817-76533818	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538248291	chr11:76533865-76533866	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376334402	chr11:76533899-76533900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs555097978	chr11:76533913-76533914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs568612255	chr11:76533988-76533989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188337943	chr11:76534016-76534017	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554374780	chr11:76534099-76534100	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550708727	chr11:76534154-76534155	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577379385	chr11:76534219-76534220	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368065345	chr11:76534241-76534242	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200303735	chr11:76534248-76534249	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540082370	chr11:76534288-76534289	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556580219	chr11:76534323-76534324	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11236954	chr11:76534324-76534325	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541463838	chr11:76534347-76534348	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546966890	chr11:76534389-76534390	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530219614	chr11:76534390-76534391	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12418112	chr11:76534391-76534392	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12278208	chr11:76534464-76534465	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141879993	chr11:76534469-76534470	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs564273169	chr11:76534481-76534482	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs368124636	chr11:76534482-76534483	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs558829178	chr11:76534500-76534501	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs80072890	chr11:76534509-76534510	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs76907213	chr11:76534511-76534512	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs77266494	chr11:76534512-76534513	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs532991391	chr11:76534635-76534636	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs550003256	chr11:76534686-76534687	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs192978524	chr11:76534714-76534715	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs143212203	chr11:76534715-76534716	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs531729851	chr11:76534727-76534728	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs548638324	chr11:76534738-76534739	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs568548199	chr11:76534772-76534773	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs563732160	chr11:76534815-76534816	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs548522725	chr11:76534860-76534861	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Usher syndrome	20538994	CNVD
Usher type I cohort	21436283	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76531600-76533600	Weak transcription	A549	lung
2	chr11:76531600-76534400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:76531800-76533400	Weak transcription	K562	blood
4	chr11:76531800-76533400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:76531800-76533600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:76531800-76534400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:76531800-76534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:76533400-76534000	Flanking Active TSS	K562	blood
9	chr11:76533400-76534600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:76533600-76533800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:76533600-76533800	Enhancers	GM12878-XiMat	blood
12	chr11:76533600-76534400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:76533600-76534400	Enhancers	A549	lung
14	chr11:76533600-76534400	Enhancers	HUVEC	blood vessel
15	chr11:76533600-76534600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:76533600-76534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:76533600-76534600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:76533600-76534600	Enhancers	NH-A	brain
19	chr11:76533600-76534600	Enhancers	NHEK	skin
20	chr11:76533600-76537400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:76533600-76537400	Enhancers	HMEC	breast
22	chr11:76533800-76534200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:76533800-76534400	Enhancers	Hela-S3	cervix
24	chr11:76533800-76536000	Weak transcription	GM12878-XiMat	blood
25	chr11:76533800-76537000	Enhancers	NHDF-Ad	bronchial
26	chr11:76534000-76534600	Active TSS	K562	blood
27	chr11:76534200-76537400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:76534400-76534600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:76534400-76534600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:76534400-76534600	Active TSS	Adipose Nuclei	Adipose
31	chr11:76534400-76534600	Flanking Active TSS	HUVEC	blood vessel
32	chr11:76534400-76534800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:76534400-76534800	Enhancers	Osteobl	bone
34	chr11:76534400-76535200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:76534400-76535200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:76534400-76535200	Enhancers	HSMM	muscle
37	chr11:76534400-76535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:76534400-76535600	Enhancers	Right Atrium	heart
39	chr11:76534400-76535600	Flanking Active TSS	A549	lung
40	chr11:76534400-76535800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:76534400-76535800	Flanking Active TSS	Hela-S3	cervix
42	chr11:76534400-76536800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:76534400-76537200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:76534400-76537200	Enhancers	Placenta	Placenta
45	chr11:76534400-76537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:76534600-76534800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:76534600-76534800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:76534600-76534800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:76534600-76534800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr11:76534600-76534800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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