Variant report

Variant	nsv569436
Chromosome Location	chr15:53879241-53926448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53676126..53677259-chr15:53878307..53879565,6	MCF-7	breast:
2	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
3	chr15:53920296..53922661-chr20:30119400..30121230,2	MCF-7	breast:
4	chr15:53057849..53058748-chr15:53878822..53879593,2	MCF-7	breast:
5	chr15:53072633..53073456-chr15:53878630..53879654,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	chromatin interactions

Extended variants
information (count: 1973 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1973 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9672398	chr15:53879241-53879242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578101970	chr15:53879251-53879252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4447369	chr15:53879272-53879273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4625672	chr15:53879276-53879277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116987091	chr15:53879304-53879305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529511567	chr15:53879332-53879333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190415799	chr15:53879342-53879343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541461508	chr15:53879382-53879383	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4488393	chr15:53879395-53879396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553800186	chr15:53879402-53879403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77469209	chr15:53879474-53879475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570486898	chr15:53879493-53879494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4448884	chr15:53879499-53879500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145542812	chr15:53879514-53879515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566787378	chr15:53879535-53879536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4448885	chr15:53879543-53879544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75015517	chr15:53879567-53879568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565857078	chr15:53879582-53879583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538374627	chr15:53879588-53879589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150652941	chr15:53879615-53879616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578026543	chr15:53879637-53879638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12916183	chr15:53879640-53879641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7169093	chr15:53879683-53879684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536614147	chr15:53879706-53879707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182932201	chr15:53879764-53879765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188096225	chr15:53879765-53879766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530434811	chr15:53879810-53879811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116256995	chr15:53879834-53879835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564048324	chr15:53879855-53879856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533023567	chr15:53879891-53879892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546850205	chr15:53879897-53879898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566648633	chr15:53879921-53879922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529249721	chr15:53879965-53879966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543177246	chr15:53880020-53880021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549287016	chr15:53880042-53880043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139724993	chr15:53880083-53880084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7171271	chr15:53880104-53880105	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs149773711	chr15:53880118-53880119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191190902	chr15:53880127-53880128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534010192	chr15:53880128-53880129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145690103	chr15:53880150-53880151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532185421	chr15:53880165-53880166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572012303	chr15:53880209-53880210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7170188	chr15:53880255-53880256	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7170192	chr15:53880264-53880265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556582033	chr15:53880282-53880283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140490439	chr15:53880292-53880293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529697096	chr15:53880314-53880315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115303140	chr15:53880354-53880355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75878396	chr15:53880490-53880491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53871400-53906600	Weak transcription	Fetal Kidney	kidney
2	chr15:53878400-53879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:53878400-53879600	Enhancers	HepG2	liver
4	chr15:53878800-53879400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr15:53878800-53879400	Enhancers	Duodenum Mucosa	Duodenum
6	chr15:53879000-53880000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:53879000-53881600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr15:53879200-53879400	Enhancers	Pancreas	Pancrea
9	chr15:53879200-53879400	Enhancers	A549	lung
10	chr15:53879200-53879600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:53879200-53879600	Enhancers	Small Intestine	intestine
12	chr15:53879200-53879800	Enhancers	Liver	Liver
13	chr15:53879400-53879600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:53879400-53879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:53879400-53879800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:53879400-53880000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:53879400-53880000	Weak transcription	A549	lung
18	chr15:53879400-53881200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:53879400-53905000	Weak transcription	Pancreas	Pancrea
20	chr15:53879600-53880200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:53879600-53880400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:53879600-53880800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:53879800-53882000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr15:53879800-53882800	Weak transcription	Liver	Liver
25	chr15:53880000-53880600	Enhancers	A549	lung
26	chr15:53880000-53881800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr15:53880000-53886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:53880200-53881600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:53880200-53881800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr15:53880400-53881000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr15:53880400-53881200	Enhancers	NH-A	brain
32	chr15:53880400-53881400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:53880600-53882200	Flanking Active TSS	A549	lung
34	chr15:53880800-53881600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:53880800-53882200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:53881200-53881600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:53881200-53881800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:53881200-53881800	Flanking Active TSS	NH-A	brain
39	chr15:53881400-53881800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:53881400-53881800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr15:53881600-53882600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:53881800-53882000	Enhancers	NH-A	brain
43	chr15:53881800-53882800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:53882200-53882800	Enhancers	A549	lung
45	chr15:53882800-53883000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:53882800-53883600	Enhancers	Liver	Liver
47	chr15:53882800-53883800	Flanking Active TSS	A549	lung
48	chr15:53883600-53884000	Weak transcription	Liver	Liver
49	chr15:53883800-53884000	Enhancers	A549	lung
50	chr15:53884000-53884400	Genic enhancers	Liver	Liver

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