Variant report

Variant	esv3415688
Chromosome Location	chr15:52576160-52579658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52578081..52580686-chr15:52860691..52862516,2	MCF-7	breast:
2	chr15:52576519..52579426-chr17:57922498..57924345,2	MCF-7	breast:
3	chr15:52532630..52535359-chr15:52579231..52581828,3	MCF-7	breast:
4	chr15:52579188..52581909-chr8:144948977..144951060,2	MCF-7	breast:
5	chr15:52541572..52560373-chr15:52569752..52591000,64	MCF-7	breast:
6	chr15:52562655..52564480-chr15:52574878..52577754,2	MCF-7	breast:
7	chr15:51896366..51899054-chr15:52579042..52581024,2	MCF-7	breast:
8	chr15:52572320..52574802-chr15:52575555..52577846,2	MCF-7	breast:
9	chr15:52552685..52555324-chr15:52573608..52576301,2	MCF-7	breast:
10	chr15:52519699..52521506-chr15:52579377..52581027,2	MCF-7	breast:
11	chr12:93172613..93174671-chr15:52578356..52580619,2	MCF-7	breast:
12	chr15:52578087..52583541-chr15:52969803..52973267,6	MCF-7	breast:
13	chr15:52567021..52571873-chr15:52572571..52576998,5	MCF-7	breast:
14	chr15:52536664..52559220-chr15:52576974..52590204,72	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221052	chromatin interactions
ENSG00000047346	chromatin interactions
ENSG00000128833	chromatin interactions
ENSG00000128989	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546091751	chr15:52576160-52576161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564095981	chr15:52576163-52576164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs180891346	chr15:52576164-52576165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146374581	chr15:52576206-52576207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116379066	chr15:52576219-52576220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570438843	chr15:52576251-52576252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375168243	chr15:52576253-52576254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537440521	chr15:52576300-52576301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79975391	chr15:52576301-52576302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs398099797	chr15:52576308-52576309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28776010	chr15:52576345-52576346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201825092	chr15:52576403-52576404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199754354	chr15:52576405-52576406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200850880	chr15:52576407-52576408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553517916	chr15:52576408-52576409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs398027298	chr15:52576418-52576419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs75942481	chr15:52576419-52576420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568850762	chr15:52576422-52576423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575834390	chr15:52576436-52576437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531083976	chr15:52576437-52576438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186070540	chr15:52576468-52576469	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs59056894	chr15:52576475-52576476	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573320114	chr15:52576492-52576493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189755187	chr15:52576500-52576501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568167025	chr15:52576579-52576580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535561043	chr15:52576595-52576596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557037507	chr15:52576598-52576599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79752182	chr15:52576615-52576616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573107533	chr15:52576641-52576642	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575614051	chr15:52576724-52576725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545914852	chr15:52576734-52576735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558024879	chr15:52576747-52576748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573224434	chr15:52576785-52576786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375517436	chr15:52576805-52576806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181218990	chr15:52576838-52576839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561873836	chr15:52576891-52576892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528962357	chr15:52576941-52576942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369836446	chr15:52576948-52576949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540225822	chr15:52576957-52576958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562473868	chr15:52576974-52576975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532925727	chr15:52577012-52577013	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28679378	chr15:52577028-52577029	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77046159	chr15:52577036-52577037	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370170371	chr15:52577037-52577038	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79490520	chr15:52577039-52577040	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576541024	chr15:52577040-52577041	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571121464	chr15:52577079-52577080	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561841709	chr15:52577112-52577113	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373211739	chr15:52577118-52577119	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528762427	chr15:52577205-52577206	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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
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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52524400-52579400	Weak transcription	Small Intestine	intestine
2	chr15:52550000-52579200	Weak transcription	Fetal Kidney	kidney
3	chr15:52554800-52582200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:52555000-52585000	Weak transcription	Left Ventricle	heart
5	chr15:52555200-52580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:52555800-52576400	Weak transcription	Hela-S3	cervix
7	chr15:52556000-52587000	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:52558800-52579400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:52559400-52580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:52561400-52580600	Weak transcription	Spleen	Spleen
11	chr15:52565800-52587000	Weak transcription	Right Atrium	heart
12	chr15:52568600-52576400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:52568600-52579400	Weak transcription	Stomach Mucosa	stomach
14	chr15:52568800-52580000	Weak transcription	Colonic Mucosa	Colon
15	chr15:52570800-52580800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:52571200-52581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:52571200-52585800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:52571200-52587000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:52571400-52580600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:52571400-52580600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:52571600-52579200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:52571600-52579200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:52572200-52577600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:52572400-52577000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:52572800-52579800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:52573400-52576600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:52574000-52580200	Weak transcription	Right Ventricle	heart
28	chr15:52574400-52579200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:52574400-52580400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:52574600-52587000	Weak transcription	Brain Anterior Caudate	brain
31	chr15:52575000-52576600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:52575000-52577400	Weak transcription	Fetal Intestine Large	intestine
33	chr15:52575000-52577800	Weak transcription	Gastric	stomach
34	chr15:52575000-52579400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:52575000-52585000	Weak transcription	Fetal Stomach	stomach
36	chr15:52575200-52576200	Weak transcription	A549	lung
37	chr15:52575200-52577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:52575200-52580600	Weak transcription	Adipose Nuclei	Adipose
39	chr15:52575400-52577000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:52575400-52579200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:52575400-52579200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:52575400-52581000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:52575400-52582000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:52575800-52577600	Weak transcription	Fetal Intestine Small	intestine
45	chr15:52575800-52577800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:52575800-52579200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:52575800-52579200	Weak transcription	HepG2	liver
48	chr15:52575800-52579400	Weak transcription	Pancreas	Pancrea
49	chr15:52575800-52580400	Weak transcription	Esophagus	oesophagus
50	chr15:52575800-52580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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