Variant report

Variant	esv2571561
Chromosome Location	chr11:16778028-16779499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16759801..16761698-chr11:16777281..16779265,2	K562	blood:
2	chr11:16769071..16772621-chr11:16777573..16781091,3	MCF-7	breast:
3	chr11:16759049..16761712-chr11:16777478..16779237,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUCB2-8	chr11:16778363-16778428	NONHSAT018184

Variant related genes	Relation type
ENSG00000110696	chromatin interactions
ENSG00000110693	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144951547	chr11:16778038-16778039	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576700961	chr11:16778088-16778089	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544105893	chr11:16778114-16778115	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561226500	chr11:16778121-16778122	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115487608	chr11:16778149-16778150	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73421166	chr11:16778151-16778152	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111486254	chr11:16778162-16778163	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556697154	chr11:16778168-16778169	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540638303	chr11:16778184-16778185	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185991654	chr11:16778198-16778199	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190401167	chr11:16778212-16778213	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551061649	chr11:16778284-16778285	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563149975	chr11:16778336-16778337	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530570068	chr11:16778386-16778387	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs181352544	chr11:16778424-16778425	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs567411450	chr11:16778433-16778434	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185432792	chr11:16778436-16778437	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs55803725	chr11:16778475-16778476	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547500731	chr11:16778546-16778547	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72862578	chr11:16778607-16778608	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539979426	chr11:16778620-16778621	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376207977	chr11:16778623-16778624	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558243713	chr11:16778629-16778630	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141923925	chr11:16778655-16778656	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71670354	chr11:16778670-16778671	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397780979	chr11:16778672-16778673	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7128876	chr11:16778673-16778674	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7109995	chr11:16778676-16778677	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7110136	chr11:16778787-16778788	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556334240	chr11:16778807-16778808	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541692185	chr11:16778887-16778888	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575065622	chr11:16778923-16778924	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558973039	chr11:16779022-16779023	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577175322	chr11:16779023-16779024	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145789728	chr11:16779099-16779100	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182611904	chr11:16779153-16779154	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188844119	chr11:16779159-16779160	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574959736	chr11:16779161-16779162	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561113341	chr11:16779168-16779169	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75230645	chr11:16779170-16779171	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372544953	chr11:16779180-16779181	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1044315	chr11:16779266-16779267	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566089237	chr11:16779287-16779288	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539797053	chr11:16779397-16779398	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551927543	chr11:16779398-16779399	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11550904	chr11:16779416-16779417	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371845100	chr11:16779459-16779460	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376315949	chr11:16779488-16779489	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557984222	chr11:16779493-16779494	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16761400-16783000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:16762200-16780200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:16763000-16780600	Strong transcription	Fetal Thymus	thymus
4	chr11:16763200-16780200	Strong transcription	Osteobl	bone
5	chr11:16763400-16780400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:16763600-16780400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:16764000-16781000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:16764400-16780000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:16764400-16780400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr11:16764600-16779600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:16764600-16780200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:16764600-16780400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:16764600-16780400	Strong transcription	A549	lung
14	chr11:16764600-16781600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:16765000-16780200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:16765000-16780400	Strong transcription	Dnd41	blood
17	chr11:16765400-16780000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:16765400-16780400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:16765800-16779600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:16765800-16779800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:16765800-16780200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:16765800-16780400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:16765800-16780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:16765800-16780600	Strong transcription	Placenta	Placenta
25	chr11:16766000-16778400	Strong transcription	Ovary	ovary
26	chr11:16766000-16779800	Strong transcription	Hela-S3	cervix
27	chr11:16766000-16780200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:16766000-16780200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:16766000-16780800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:16766000-16781000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:16766200-16778800	Strong transcription	Liver	Liver
32	chr11:16766200-16780200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr11:16766200-16780600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:16766200-16780600	Strong transcription	Fetal Intestine Large	intestine
35	chr11:16766400-16779800	Strong transcription	NH-A	brain
36	chr11:16766400-16780400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:16766600-16778200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:16766600-16780800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:16766800-16780800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:16767000-16780200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:16767000-16780200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:16767600-16780200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:16767800-16780200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:16767800-16780400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:16767800-16780400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:16767800-16780600	Strong transcription	Adipose Nuclei	Adipose
47	chr11:16769400-16781200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:16771000-16779600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:16771000-16780200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:16771200-16780400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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