Variant report

Variant	esv2759805
Chromosome Location	chr11:16915291-16934130
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16831644..16833328-chr11:16933413..16935147,2	MCF-7	breast:
2	chr11:16901136..16902901-chr11:16914387..16916198,2	K562	blood:
3	chr11:16932846..16935000-chr11:16942811..16944331,2	MCF-7	breast:
4	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
5	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:
6	chr11:16915696..16917926-chr11:16944462..16946191,2	MCF-7	breast:
7	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
8	chr11:16931101..16934600-chr11:16936301..16938112,4	K562	blood:
9	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:
10	chr11:16931317..16933544-chr11:16934483..16936096,2	MCF-7	breast:
11	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
12	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
13	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
14	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:
15	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
16	chr11:16883507..16885093-chr11:16913908..16916539,2	MCF-7	breast:
17	chr11:16924785..16927963-chr11:16940444..16943241,3	MCF-7	breast:
18	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
19	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:
20	chr11:16918607..16920232-chr8:87576439..87578551,2	MCF-7	breast:
21	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:

No data

Extended variants
information (count: 709 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11824348	chr11:16915291-16915292	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558076616	chr11:16915305-16915306	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569992226	chr11:16915344-16915345	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182751843	chr11:16915372-16915373	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140354181	chr11:16915415-16915416	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs571712251	chr11:16915423-16915424	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs573525591	chr11:16915432-16915433	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545857168	chr11:16915443-16915444	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs541121479	chr11:16915494-16915495	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs552751522	chr11:16915525-16915526	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs187029372	chr11:16915556-16915557	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs57113580	chr11:16915566-16915567	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs191106100	chr11:16915596-16915597	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs147012816	chr11:16915601-16915602	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563605746	chr11:16915642-16915643	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530812983	chr11:16915643-16915644	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542523407	chr11:16915653-16915654	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182953288	chr11:16915676-16915677	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138080394	chr11:16915827-16915828	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570499609	chr11:16915885-16915886	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368947165	chr11:16915938-16915939	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547880383	chr11:16915953-16915954	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531518600	chr11:16916014-16916015	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565831684	chr11:16916058-16916059	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533375430	chr11:16916089-16916090	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187579869	chr11:16916135-16916136	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551541229	chr11:16916137-16916138	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34512388	chr11:16916178-16916179	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143652727	chr11:16916225-16916226	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35374314	chr11:16916264-16916265	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532611703	chr11:16916285-16916286	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146022065	chr11:16916335-16916336	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555737289	chr11:16916337-16916338	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567262149	chr11:16916338-16916339	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10832695	chr11:16916347-16916348	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111989268	chr11:16916477-16916478	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7128212	chr11:16916520-16916521	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538871796	chr11:16916530-16916531	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557208387	chr11:16916532-16916533	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114302385	chr11:16916558-16916559	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542913871	chr11:16916618-16916619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560986504	chr11:16916620-16916621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149389343	chr11:16916622-16916623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71484737	chr11:16916638-16916639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34977744	chr11:16916642-16916643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541043953	chr11:16916655-16916656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559453314	chr11:16916665-16916666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193295179	chr11:16916676-16916677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369428941	chr11:16916725-16916726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370055889	chr11:16916832-16916833	Weak transcription Enhancers Bivalent Enhancer	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16910000-16917800	Weak transcription	Lung	lung
2	chr11:16911200-16916000	Enhancers	Stomach Mucosa	stomach
3	chr11:16912200-16923600	Weak transcription	A549	lung
4	chr11:16912400-16919400	Weak transcription	Liver	Liver
5	chr11:16912600-16915600	Enhancers	NHDF-Ad	bronchial
6	chr11:16912600-16915800	Enhancers	HMEC	breast
7	chr11:16912600-16916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:16912600-16916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:16912800-16915600	Enhancers	Osteobl	bone
10	chr11:16913000-16918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:16913400-16916800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:16913600-16916000	Enhancers	Pancreas	Pancrea
13	chr11:16913600-16916200	Enhancers	Left Ventricle	heart
14	chr11:16913800-16916400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:16913800-16921800	Enhancers	Fetal Heart	heart
16	chr11:16914000-16917000	Weak transcription	HSMM	muscle
17	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
18	chr11:16914200-16916000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:16914400-16915600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:16914400-16916000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:16914400-16916200	Enhancers	Gastric	stomach
22	chr11:16914400-16919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:16914600-16915600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:16914600-16916000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:16914600-16921200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:16914800-16915600	Enhancers	Fetal Intestine Small	intestine
27	chr11:16914800-16915800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:16915000-16915400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr11:16915000-16915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:16915000-16915600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:16915000-16915800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:16915000-16915800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:16915000-16915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:16915000-16915800	Enhancers	Placenta	Placenta
35	chr11:16915000-16915800	Enhancers	Right Atrium	heart
36	chr11:16915000-16916000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:16915000-16916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:16915000-16916000	Enhancers	Adipose Nuclei	Adipose
39	chr11:16915000-16917000	Enhancers	Esophagus	oesophagus
40	chr11:16915200-16915400	Enhancers	Fetal Intestine Large	intestine
41	chr11:16915200-16915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:16915200-16915800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:16915200-16915800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:16915200-16915800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr11:16915200-16915800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:16915200-16915800	Enhancers	Right Ventricle	heart
47	chr11:16915200-16916000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:16915200-16916000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:16915200-16916000	Enhancers	Spleen	Spleen
50	chr11:16915400-16915600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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