Variant report

Variant	esv275353
Chromosome Location	chr15:50611393-50615498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50615493..50617182-chr15:50624242..50626311,2	MCF-7	breast:
2	chr15:50610712..50612973-chr15:50619651..50621682,2	MCF-7	breast:
3	chr15:50444903..50447487-chr15:50612811..50614649,2	MCF-7	breast:
4	chr15:50610363..50615933-chr15:50616213..50621203,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104064	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542767694	chr15:50611461-50611462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138520775	chr15:50611466-50611467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562660120	chr15:50611521-50611522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185691608	chr15:50611525-50611526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533213795	chr15:50611527-50611528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538848193	chr15:50611557-50611558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190408382	chr15:50611589-50611590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572661888	chr15:50611667-50611668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183313592	chr15:50611678-50611679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186561042	chr15:50611684-50611685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4775876	chr15:50611716-50611717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs528299674	chr15:50611753-50611754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543578525	chr15:50611765-50611766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564952175	chr15:50611805-50611806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532395311	chr15:50611820-50611821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540858076	chr15:50611830-50611831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559457215	chr15:50611901-50611902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529947246	chr15:50611926-50611927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200410553	chr15:50611973-50611974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548434897	chr15:50611979-50611980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367911552	chr15:50611997-50611998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567335222	chr15:50612008-50612009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2033114	chr15:50612014-50612015	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs191973523	chr15:50612020-50612021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564282875	chr15:50612022-50612023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10638724	chr15:50612036-50612037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35284236	chr15:50612037-50612038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34466799	chr15:50612039-50612040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs3076983	chr15:50612059-50612060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533261368	chr15:50612101-50612102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571400305	chr15:50612122-50612123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539083641	chr15:50612193-50612194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545172066	chr15:50612249-50612250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147915892	chr15:50612251-50612252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141648578	chr15:50612254-50612255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375030995	chr15:50612329-50612330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566662940	chr15:50612399-50612400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147051486	chr15:50612422-50612423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576135875	chr15:50612451-50612452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183712533	chr15:50612485-50612486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535810413	chr15:50612502-50612503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138128278	chr15:50612514-50612515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567419634	chr15:50612516-50612517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531351122	chr15:50612526-50612527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577021414	chr15:50612624-50612625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111774635	chr15:50612634-50612635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559304574	chr15:50612644-50612645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371353083	chr15:50612659-50612660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1972700	chr15:50612660-50612661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs1972699	chr15:50612698-50612699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50580800-50638400	Weak transcription	NHEK	skin
2	chr15:50596400-50623400	Weak transcription	Aorta	Aorta
3	chr15:50596800-50611400	Weak transcription	Right Atrium	heart
4	chr15:50597000-50628600	Weak transcription	Fetal Stomach	stomach
5	chr15:50600800-50612800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:50600800-50613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:50600800-50617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:50600800-50618600	Weak transcription	Fetal Intestine Large	intestine
9	chr15:50600800-50623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:50600800-50629400	Weak transcription	Placenta	Placenta
11	chr15:50600800-50631200	Weak transcription	Left Ventricle	heart
12	chr15:50600800-50635400	Weak transcription	HepG2	liver
13	chr15:50600800-50641400	Weak transcription	HSMM	muscle
14	chr15:50600800-50641600	Weak transcription	Fetal Kidney	kidney
15	chr15:50600800-50643000	Weak transcription	Fetal Thymus	thymus
16	chr15:50600800-50643400	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:50600800-50644200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:50600800-50644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:50601000-50614400	Weak transcription	Psoas Muscle	Psoas
20	chr15:50601000-50622800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:50601000-50627200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:50601000-50630400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:50601000-50637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:50601000-50638400	Weak transcription	HUVEC	blood vessel
25	chr15:50601400-50642800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:50602200-50621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:50602200-50625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:50608600-50623200	Weak transcription	A549	lung
29	chr15:50608800-50615600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:50608800-50642800	Weak transcription	Hela-S3	cervix
31	chr15:50610200-50611400	Enhancers	Primary T cells from cord blood	blood
32	chr15:50610400-50611400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr15:50610400-50611600	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:50610400-50611600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:50610400-50611600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr15:50610400-50611800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:50610600-50611400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr15:50610800-50611400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr15:50610800-50611400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr15:50610800-50611400	Enhancers	GM12878-XiMat	blood
41	chr15:50610800-50611800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr15:50611000-50611400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:50611000-50611600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:50611000-50612600	Weak transcription	Primary B cells from cord blood	blood
45	chr15:50611200-50611600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:50611200-50611600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:50611200-50616200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:50611200-50640400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:50611200-50641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:50611400-50611600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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