Variant report

Variant	esv3396970
Chromosome Location	chr11:16658425-16715569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16691188..16692933-chr11:16759171..16761829,2	MCF-7	breast:
2	chr11:16691570..16693601-chr11:16731632..16734150,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf58-2	chr11:16667585-16667856	NONHSAT018181
2	lnc-C11orf58-2	chr11:16676687-16677089	NONHSAT018181

Variant related genes	Relation type
ENSG00000110693	chromatin interactions
ENSG00000110696	chromatin interactions

Extended variants
information (count: 1085 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79021919	chr11:16667607-16667608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs78261475	chr11:16667676-16667677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs188872929	chr11:16667704-16667705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532743070	chr11:16667801-16667802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551092721	chr11:16667804-16667805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11024008	chr11:16667834-16667835	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138815676	chr11:16667835-16667836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369742484	chr11:16669029-16669030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573929004	chr11:16669055-16669056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534852537	chr11:16669056-16669057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542349728	chr11:16669060-16669061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553256292	chr11:16669061-16669062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577877216	chr11:16669207-16669208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545370841	chr11:16669267-16669268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184288977	chr11:16669280-16669281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575109663	chr11:16669398-16669399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7481820	chr11:16669438-16669439	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560932261	chr11:16669467-16669468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528315372	chr11:16669484-16669485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540381794	chr11:16669509-16669510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188537619	chr11:16669519-16669520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117415553	chr11:16669544-16669545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550594488	chr11:16669556-16669557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57160078	chr11:16669576-16669577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530794608	chr11:16669577-16669578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549470402	chr11:16669585-16669586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150523236	chr11:16669618-16669619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35433836	chr11:16669679-16669680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180947103	chr11:16669702-16669703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7481887	chr11:16669707-16669708	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139525554	chr11:16669711-16669712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539347268	chr11:16669797-16669798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143126550	chr11:16669843-16669844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556816589	chr11:16669861-16669862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575212219	chr11:16669863-16669864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185897633	chr11:16669891-16669892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375823127	chr11:16669929-16669930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146661025	chr11:16670014-16670015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540321534	chr11:16670048-16670049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575278884	chr11:16670130-16670131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376304004	chr11:16670135-16670136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140249477	chr11:16670161-16670162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4756858	chr11:16670197-16670198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs544525835	chr11:16670229-16670230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562605658	chr11:16670244-16670245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370375785	chr11:16670286-16670287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199984545	chr11:16670324-16670325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10832665	chr11:16670394-16670395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548927889	chr11:16670447-16670448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567314316	chr11:16670486-16670487	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16669000-16669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:16669200-16670000	Weak transcription	Pancreas	Pancrea
3	chr11:16669400-16669800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:16669800-16680800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:16670000-16670200	Enhancers	Pancreas	Pancrea
6	chr11:16670200-16670400	Weak transcription	Pancreas	Pancrea
7	chr11:16673800-16674200	Active TSS	Fetal Heart	heart
8	chr11:16683800-16686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:16686200-16686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:16686400-16687000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16687200-16687400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:16687400-16690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:16690800-16691400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:16690800-16691400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:16690800-16691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:16690800-16691600	Enhancers	HSMM	muscle
17	chr11:16690800-16691800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:16690800-16692000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:16690800-16692000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:16690800-16692000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:16690800-16692000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:16690800-16692000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:16690800-16692000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:16690800-16692000	Enhancers	HMEC	breast
25	chr11:16690800-16692000	Enhancers	NHEK	skin
26	chr11:16691000-16691200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:16691000-16691400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:16691000-16691400	Enhancers	HSMMtube	muscle
29	chr11:16691000-16691400	Enhancers	NH-A	brain
30	chr11:16691000-16691800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:16691000-16691800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:16691000-16691800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:16691000-16691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:16691000-16691800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:16691000-16691800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:16691000-16691800	Enhancers	A549	lung
37	chr11:16691000-16692000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:16691000-16692000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:16691000-16692200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:16691200-16691600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:16691200-16691800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:16691200-16692000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:16691400-16691800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:16691400-16692200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:16691600-16691800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:16691600-16692400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:16691800-16692000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:16692200-16700200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:16700000-16700600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:16700200-16700600	Enhancers	HUES48 Cell Line	embryonic stem cell

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