Variant report

Variant	nsv569453
Chromosome Location	chr15:54153462-54172552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:54164441..54166381-chr15:54167099..54170073,2	MCF-7	breast:
2	chr15:54166889..54167944-chr15:54254910..54255478,3	MCF-7	breast:
3	chr15:54164441..54166381-chr15:54167099..54170073,2	MCF-7	breast:
4	chr15:54166967..54168008-chr15:54254966..54255810,4	MCF-7	breast:

Extended variants
information (count: 653 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2256003	chr15:54153462-54153463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184074631	chr15:54153477-54153478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2711642	chr15:54153478-54153479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187905017	chr15:54153524-54153525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373312608	chr15:54153526-54153527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538241602	chr15:54153544-54153545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533286874	chr15:54153548-54153549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558553030	chr15:54153580-54153581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192074526	chr15:54153585-54153586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2255994	chr15:54153623-54153624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs3848139	chr15:54153637-54153638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144819666	chr15:54153659-54153660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56348770	chr15:54153664-54153665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574246766	chr15:54153671-54153672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529091656	chr15:54153689-54153690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184425249	chr15:54153704-54153705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549118914	chr15:54153732-54153733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78667493	chr15:54153769-54153770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188492218	chr15:54153794-54153795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371262042	chr15:54153815-54153816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545853784	chr15:54153821-54153822	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374166888	chr15:54153864-54153865	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574417031	chr15:54153865-54153866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559669629	chr15:54153896-54153897	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11855015	chr15:54153910-54153911	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548820191	chr15:54153914-54153915	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192946911	chr15:54153915-54153916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368519932	chr15:54154021-54154022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150257279	chr15:54154023-54154024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551232411	chr15:54154027-54154028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569748165	chr15:54154029-54154030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10506993	chr15:54154047-54154048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370622763	chr15:54154054-54154055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552003526	chr15:54154059-54154060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565630149	chr15:54154128-54154129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537171232	chr15:54154133-54154134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372707227	chr15:54154162-54154163	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138862144	chr15:54154180-54154181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184209687	chr15:54154186-54154187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536833055	chr15:54154194-54154195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2711641	chr15:54154228-54154229	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189479168	chr15:54154241-54154242	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs71474854	chr15:54154242-54154243	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144714470	chr15:54154246-54154247	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565538082	chr15:54154268-54154269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573189320	chr15:54154285-54154286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374761397	chr15:54154315-54154316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114682742	chr15:54154320-54154321	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148514136	chr15:54154348-54154349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531262157	chr15:54154380-54154381	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54153000-54153600	Weak transcription	Fetal Kidney	kidney
2	chr15:54153600-54153800	Enhancers	Fetal Kidney	kidney
3	chr15:54153800-54154200	Enhancers	Fetal Lung	lung
4	chr15:54153800-54154600	Flanking Active TSS	Fetal Kidney	kidney
5	chr15:54153800-54156200	Enhancers	Fetal Intestine Large	intestine
6	chr15:54153800-54156200	Enhancers	Fetal Intestine Small	intestine
7	chr15:54154000-54154200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:54154200-54154400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:54154200-54155400	Enhancers	Stomach Mucosa	stomach
10	chr15:54154400-54167800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:54154600-54154800	Enhancers	A549	lung
12	chr15:54154600-54155200	Enhancers	HepG2	liver
13	chr15:54154600-54155600	Enhancers	Fetal Kidney	kidney
14	chr15:54154800-54155600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:54155400-54155600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:54155400-54155600	Enhancers	A549	lung
17	chr15:54155600-54157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:54156000-54156200	Enhancers	Fetal Lung	lung
19	chr15:54157400-54157600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:54157600-54158200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:54160400-54161800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:54161800-54162200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr15:54164200-54165600	Enhancers	HepG2	liver
24	chr15:54164400-54164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:54164600-54165200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:54164800-54165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:54167800-54168200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:54172200-54172600	Enhancers	HepG2	liver
29	chr15:54172400-54172600	Active TSS	Adipose Nuclei	Adipose
30	chr15:54172400-54172800	Enhancers	Brain Hippocampus Middle	brain

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