Variant report

Variant	esv4732
Chromosome Location	chr15:52816238-52816990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52814093..52816387-chr15:52859030..52861250,2	K562	blood:
2	chr15:52815685..52818826-chr15:52821088..52823624,4	K562	blood:
3	chr15:52816804..52818865-chr15:52821369..52824453,4	K562	blood:
4	chr15:52812726..52818760-chr15:52818912..52822448,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197535	chromatin interactions
ENSG00000128989	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535616721	chr15:52816266-52816267	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557220593	chr15:52816268-52816269	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376442644	chr15:52816312-52816313	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568917686	chr15:52816341-52816342	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1693508	chr15:52816342-52816343	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs557733307	chr15:52816356-52816357	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369580842	chr15:52816381-52816382	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35337456	chr15:52816386-52816387	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201486228	chr15:52816425-52816426	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572703854	chr15:52816507-52816508	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111586078	chr15:52816586-52816587	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181798041	chr15:52816621-52816622	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553219330	chr15:52816659-52816660	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574818514	chr15:52816664-52816665	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541998427	chr15:52816738-52816739	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117674589	chr15:52816743-52816744	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75078754	chr15:52816748-52816749	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79044939	chr15:52816749-52816750	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376789638	chr15:52816750-52816751	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368601961	chr15:52816751-52816752	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368085762	chr15:52816787-52816788	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55753650	chr15:52816790-52816791	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531029444	chr15:52816813-52816814	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185096272	chr15:52816832-52816833	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564611434	chr15:52816838-52816839	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528458565	chr15:52816840-52816841	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189565916	chr15:52816851-52816852	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139938104	chr15:52816883-52816884	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11854405	chr15:52816892-52816893	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs550741384	chr15:52816902-52816903	Weak transcription Enhancers Transcr. at gene 5' and 3'	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
3	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:52807400-52820200	Weak transcription	Lung	lung
5	chr15:52807800-52816800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:52811400-52816400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:52811600-52817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:52811600-52817600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:52811600-52819400	Weak transcription	Primary B cells from cord blood	blood
11	chr15:52812400-52819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:52812600-52820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:52812800-52816600	Weak transcription	Psoas Muscle	Psoas
14	chr15:52812800-52819800	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:52812800-52819800	Weak transcription	HSMMtube	muscle
16	chr15:52812800-52820200	Weak transcription	Left Ventricle	heart
17	chr15:52812800-52820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:52812800-52820200	Weak transcription	Small Intestine	intestine
19	chr15:52813000-52819400	Weak transcription	Fetal Heart	heart
20	chr15:52813000-52819600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:52813000-52819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:52813600-52817000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:52813800-52816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:52813800-52819600	Weak transcription	GM12878-XiMat	blood
25	chr15:52813800-52819800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:52814000-52818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:52814200-52817600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:52814200-52818200	Enhancers	HMEC	breast
29	chr15:52814400-52819600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:52814800-52816400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr15:52814800-52816400	Enhancers	NHDF-Ad	bronchial
32	chr15:52814800-52816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:52814800-52816600	Enhancers	Brain Anterior Caudate	brain
34	chr15:52814800-52817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:52814800-52819400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:52815000-52816400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:52815000-52816400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:52815200-52816400	Enhancers	NHLF	lung
39	chr15:52815200-52816800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:52815400-52816400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:52815600-52820000	Weak transcription	Right Atrium	heart
42	chr15:52815800-52816800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:52815800-52818000	Weak transcription	Brain Angular Gyrus	brain
44	chr15:52815800-52820000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:52816000-52816400	Enhancers	Fetal Brain Female	brain
46	chr15:52816000-52817400	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:52816000-52818200	Enhancers	NHEK	skin
48	chr15:52816000-52819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:52816000-52819800	Weak transcription	Brain Substantia Nigra	brain
50	chr15:52816000-52820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links