Variant report

Variant	nsv1041166
Chromosome Location	chr11:15180923-15201266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:15122380..15123325-chr11:15180400..15181564,9	MCF-7	breast:
2	chr11:15186678..15192407-chr11:15194914..15199255,7	K562	blood:
3	chr11:15174454..15176169-chr11:15182316..15184921,2	K562	blood:
4	chr11:15096186..15096707-chr11:15180542..15181331,2	MCF-7	breast:
5	chr11:15186678..15192407-chr11:15194914..15199255,7	K562	blood:
6	chr11:15122445..15123286-chr11:15180348..15181279,4	MCF-7	breast:

Extended variants
information (count: 830 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1714345	chr11:15180923-15180924	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554775178	chr11:15180931-15180932	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577742873	chr11:15180998-15180999	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140837665	chr11:15181014-15181015	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559808384	chr11:15181049-15181050	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182451766	chr11:15181052-15181053	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12273082	chr11:15181077-15181078	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144591429	chr11:15181130-15181131	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187807435	chr11:15181170-15181171	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562453670	chr11:15181172-15181173	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192438650	chr11:15181187-15181188	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547977887	chr11:15181227-15181228	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560777649	chr11:15181233-15181234	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148232675	chr11:15181278-15181279	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528915719	chr11:15181317-15181318	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548571896	chr11:15181328-15181329	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150735118	chr11:15181358-15181359	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538113463	chr11:15181397-15181398	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369148306	chr11:15181445-15181446	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138037561	chr11:15181456-15181457	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143601740	chr11:15181457-15181458	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7109292	chr11:15181521-15181522	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553986685	chr11:15181522-15181523	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572459441	chr11:15181530-15181531	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56391143	chr11:15181535-15181536	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147227404	chr11:15181544-15181545	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12293568	chr11:15181589-15181590	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1714344	chr11:15181614-15181615	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs111456677	chr11:15181648-15181649	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562551460	chr11:15181650-15181651	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200763957	chr11:15181652-15181653	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1792571	chr11:15181696-15181697	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs539633889	chr11:15181706-15181707	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1792570	chr11:15181708-15181709	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1714343	chr11:15181718-15181719	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553238107	chr11:15181782-15181783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140585857	chr11:15181785-15181786	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1792555	chr11:15181791-15181792	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114615029	chr11:15181795-15181796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183943056	chr11:15181819-15181820	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550055784	chr11:15181824-15181825	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568699871	chr11:15181841-15181842	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79814533	chr11:15181859-15181860	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535487576	chr11:15181895-15181896	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144662731	chr11:15181908-15181909	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566059116	chr11:15181915-15181916	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144672763	chr11:15181937-15181938	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558816483	chr11:15181948-15181949	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374999052	chr11:15181965-15181966	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142872410	chr11:15182017-15182018	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16608533	CNVD
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
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15167200-15182800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:15178200-15181200	Enhancers	NHDF-Ad	bronchial
3	chr11:15178200-15183600	Enhancers	NHLF	lung
4	chr11:15178600-15181000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:15178600-15181000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:15179200-15183000	Weak transcription	Fetal Stomach	stomach
7	chr11:15179600-15181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:15180200-15181600	Weak transcription	Fetal Lung	lung
9	chr11:15180400-15184400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:15180800-15181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:15180800-15182000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:15180800-15182200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:15180800-15182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:15180800-15191400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:15181000-15181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:15181400-15184400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:15181600-15185200	Enhancers	Fetal Lung	lung
18	chr11:15181800-15182000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:15181800-15182400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:15182200-15187000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:15182400-15182600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:15182400-15182800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:15182800-15183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:15182800-15183600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:15183000-15183200	Enhancers	Fetal Stomach	stomach
26	chr11:15183200-15183600	Weak transcription	Fetal Stomach	stomach
27	chr11:15183400-15185200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:15183400-15191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:15183600-15184000	Enhancers	Fetal Stomach	stomach
30	chr11:15183600-15191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:15184400-15185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:15184400-15190600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:15184600-15185400	Enhancers	Primary B cells from cord blood	blood
34	chr11:15184800-15186200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:15184800-15188400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:15185200-15185600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:15185600-15188800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:15186200-15187800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:15187000-15188800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:15187400-15188600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:15187600-15188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:15187800-15188400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:15188400-15191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:15188800-15191400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:15188800-15195400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:15190600-15190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:15190800-15191200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:15191000-15201000	Weak transcription	Aorta	Aorta
49	chr11:15191200-15192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:15191200-15194200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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