Variant report

Variant	esv2460369
Chromosome Location	chr15:58595796-58597424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58596834..58598473-chr15:58598758..58600301,2	MCF-7	breast:
2	chr15:58343646..58346573-chr15:58595833..58597683,2	K562	blood:
3	chr15:58595612..58601278-chr15:58601529..58605992,7	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77366007	chr15:58595800-58595801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369623985	chr15:58595853-58595854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77910238	chr15:58595880-58595881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551330314	chr15:58595896-58595897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377183657	chr15:58595929-58595930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2077320	chr15:58595933-58595934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192032655	chr15:58595951-58595952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142383185	chr15:58595984-58595985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567344042	chr15:58596017-58596018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185334760	chr15:58596029-58596030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560077013	chr15:58596076-58596077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16940037	chr15:58596105-58596106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190223907	chr15:58596152-58596153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538753613	chr15:58596172-58596173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201641770	chr15:58596185-58596186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538869139	chr15:58596196-58596197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531951254	chr15:58596209-58596210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111378813	chr15:58596242-58596243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572075783	chr15:58596245-58596246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534494855	chr15:58596268-58596269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151327626	chr15:58596302-58596303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574134594	chr15:58596348-58596349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193255981	chr15:58596378-58596379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556500250	chr15:58596384-58596385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185736771	chr15:58596414-58596415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551946976	chr15:58596456-58596457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16953374	chr15:58596475-58596476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376864168	chr15:58596507-58596508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200522121	chr15:58596508-58596509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201401911	chr15:58596510-58596511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371412336	chr15:58596511-58596512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188110207	chr15:58596517-58596518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533019232	chr15:58596518-58596519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199904695	chr15:58596534-58596535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75154115	chr15:58596535-58596536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75616611	chr15:58596547-58596548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76476316	chr15:58596548-58596549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370328981	chr15:58596731-58596732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564888428	chr15:58596785-58596786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527724666	chr15:58596816-58596817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540954056	chr15:58596817-58596818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76582654	chr15:58596844-58596845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145809611	chr15:58596855-58596856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529966727	chr15:58597018-58597019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80092563	chr15:58597021-58597022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566448505	chr15:58597068-58597069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569878749	chr15:58597099-58597100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73424243	chr15:58597115-58597116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376525961	chr15:58597125-58597126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552350100	chr15:58597148-58597149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58587400-58598800	Weak transcription	Fetal Kidney	kidney
2	chr15:58590200-58602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:58592000-58598600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:58593400-58598400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:58594800-58596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:58595000-58595800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:58595000-58598800	Weak transcription	Adipose Nuclei	Adipose
8	chr15:58595000-58598800	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:58595200-58595800	Enhancers	Primary T cells from cord blood	blood
10	chr15:58595200-58595800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:58595200-58595800	Enhancers	Fetal Thymus	thymus
12	chr15:58595200-58595800	Enhancers	Thymus	Thymus
13	chr15:58595200-58596000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:58595200-58598600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:58595400-58595800	Enhancers	K562	blood
16	chr15:58595400-58597200	Weak transcription	Liver	Liver
17	chr15:58595400-58598800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:58595600-58595800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:58595600-58596000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:58595600-58599000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr15:58595800-58596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:58595800-58598400	Weak transcription	Fetal Thymus	thymus
23	chr15:58595800-58598600	Weak transcription	Primary T cells from cord blood	blood
24	chr15:58595800-58598800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:58595800-58599000	Weak transcription	Thymus	Thymus
26	chr15:58595800-58601800	Weak transcription	K562	blood
27	chr15:58595800-58605000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:58596000-58596200	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:58596000-58596200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:58596000-58599200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:58597200-58600600	Enhancers	Liver	Liver
32	chr15:58597200-58600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:58597400-58597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links