Variant report

Variant	esv3323136
Chromosome Location	chr15:52388258-52389766
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52388135..52390483-chr15:52464352..52466647,2	MCF-7	breast:
2	chr15:52389305..52392233-chr15:52393391..52397295,3	K562	blood:
3	chr15:52385731..52388322-chr15:52391743..52394058,2	MCF-7	breast:
4	chr15:52389305..52392233-chr15:52393391..52396021,3	K562	blood:
5	chr15:52262398..52265193-chr15:52386264..52389426,3	MCF-7	breast:
6	chr15:52388531..52391551-chr15:52401411..52403881,3	MCF-7	breast:
7	chr15:52309194..52314432-chr15:52385325..52393461,10	MCF-7	breast:
8	chr15:52389425..52391021-chr15:52422602..52424878,2	MCF-7	breast:
9	chr15:52388959..52390799-chr15:52394225..52395802,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259438	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000166477	chromatin interactions
ENSG00000259712	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11857876	chr15:52388279-52388280	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76860211	chr15:52388317-52388318	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188673453	chr15:52388330-52388331	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371419576	chr15:52388382-52388383	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11857917	chr15:52388411-52388412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11854744	chr15:52388415-52388416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190952670	chr15:52388500-52388501	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs147108693	chr15:52388503-52388504	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs28883600	chr15:52388534-52388535	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547095275	chr15:52388616-52388617	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113450185	chr15:52388627-52388628	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547364910	chr15:52388629-52388630	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138518875	chr15:52388682-52388683	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540463324	chr15:52388703-52388704	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs182429541	chr15:52388708-52388709	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11634338	chr15:52388719-52388720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569412266	chr15:52388722-52388723	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186767095	chr15:52388742-52388743	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150232718	chr15:52388780-52388781	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs558827967	chr15:52388781-52388782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs577032046	chr15:52388791-52388792	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541053306	chr15:52388837-52388838	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559374777	chr15:52388880-52388881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs138896325	chr15:52388881-52388882	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368346349	chr15:52388927-52388928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs562040932	chr15:52388997-52388998	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538028176	chr15:52389025-52389026	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs149374085	chr15:52389130-52389131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs531949841	chr15:52389149-52389150	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs11639229	chr15:52389150-52389151	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs565600294	chr15:52389154-52389155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs191783466	chr15:52389160-52389161	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144756858	chr15:52389167-52389168	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565735617	chr15:52389180-52389181	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371391103	chr15:52389223-52389224	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs55912736	chr15:52389237-52389238	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs28583278	chr15:52389278-52389279	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs16964736	chr15:52389300-52389301	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570015974	chr15:52389310-52389311	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs75484084	chr15:52389331-52389332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs114911558	chr15:52389332-52389333	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558443620	chr15:52389333-52389334	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs56196707	chr15:52389362-52389363	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs142797843	chr15:52389399-52389400	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569009616	chr15:52389420-52389421	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs66742869	chr15:52389437-52389438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76564808	chr15:52389439-52389440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs55783239	chr15:52389452-52389453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563419028	chr15:52389517-52389518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34997936	chr15:52389566-52389567	Weak transcription Enhancers	Chromatin interactive region	2 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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52385000-52388400	Enhancers	HMEC	breast
2	chr15:52385800-52395400	Weak transcription	Fetal Kidney	kidney
3	chr15:52386000-52388400	Enhancers	Adipose Nuclei	Adipose
4	chr15:52386200-52399000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:52386400-52391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:52386600-52388400	Enhancers	GM12878-XiMat	blood
7	chr15:52386600-52389400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:52386600-52389400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:52386600-52390800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:52386600-52393000	Weak transcription	Right Atrium	heart
11	chr15:52386800-52388600	Enhancers	Osteobl	bone
12	chr15:52386800-52390600	Weak transcription	Liver	Liver
13	chr15:52386800-52392600	Weak transcription	Placenta	Placenta
14	chr15:52387200-52390400	Weak transcription	HepG2	liver
15	chr15:52387400-52389400	Weak transcription	Fetal Intestine Small	intestine
16	chr15:52387600-52388400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:52387600-52388600	Enhancers	NHDF-Ad	bronchial
18	chr15:52387600-52389000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:52387600-52389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:52387600-52389400	Weak transcription	Colonic Mucosa	Colon
21	chr15:52387600-52389400	Weak transcription	Fetal Intestine Large	intestine
22	chr15:52387600-52389400	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:52387600-52389400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:52387600-52389800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:52387600-52392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:52387600-52392600	Weak transcription	NH-A	brain
27	chr15:52387600-52395200	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:52387600-52395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:52387600-52395400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:52387600-52396600	Weak transcription	Spleen	Spleen
31	chr15:52387600-52396800	Weak transcription	Esophagus	oesophagus
32	chr15:52387800-52388600	Enhancers	NHEK	skin
33	chr15:52387800-52388800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:52387800-52388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:52387800-52389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:52387800-52389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:52387800-52391800	Enhancers	Hela-S3	cervix
38	chr15:52387800-52392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:52387800-52392400	Weak transcription	NHLF	lung
40	chr15:52387800-52392600	Weak transcription	Ovary	ovary
41	chr15:52387800-52393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:52387800-52393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:52387800-52393000	Weak transcription	Small Intestine	intestine
44	chr15:52387800-52393000	Weak transcription	HSMMtube	muscle
45	chr15:52388000-52389400	Weak transcription	HSMM	muscle
46	chr15:52388000-52389400	Weak transcription	HUVEC	blood vessel
47	chr15:52388000-52393200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:52388200-52388400	Enhancers	A549	lung
49	chr15:52388200-52388600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:52388200-52389600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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