Variant report

Variant	esv3404248
Chromosome Location	chr15:50892260-50896558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:50894818-50895097	HepG2	liver:	n/a	n/a
2	CEBPB	chr15:50894829-50895045	A549	lung:	n/a	n/a
3	MAFK	chr15:50893123-50893166	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:50894958-50894969	ProgFib	skin:	n/a	n/a
5	POLR2A	chr15:50894722-50894823	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:50894691-50895434	K562	blood:	n/a	n/a
7	POLR2A	chr15:50894781-50895164	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:50894868-50895277	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50889435..50893254-chr15:50893944..50897716,3	K562	blood:
2	chr15:50894679..50897378-chr15:50902879..50904659,2	MCF-7	breast:
3	chr15:50645917..50650602-chr15:50893213..50896172,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRPM7	hsa-miR-10a-5p	chr15:50896505-50896530

Variant related genes	Relation type
TRPM7	TF binding region
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000092439	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs148744081	chr15:50892264-50892265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553590051	chr15:50892283-50892284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199633779	chr15:50892290-50892291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571667659	chr15:50892333-50892334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544749884	chr15:50892391-50892392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542232267	chr15:50892399-50892400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554417093	chr15:50892490-50892491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575911000	chr15:50892495-50892496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543390481	chr15:50892500-50892501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189070183	chr15:50892527-50892528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532251045	chr15:50892536-50892537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545434852	chr15:50892586-50892587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559792908	chr15:50892607-50892608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569034522	chr15:50892646-50892647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75188490	chr15:50892649-50892650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560574688	chr15:50892650-50892651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62017167	chr15:50892652-50892653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368159973	chr15:50892661-50892662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549420277	chr15:50892694-50892695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141492472	chr15:50892740-50892741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532027516	chr15:50892804-50892805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550255232	chr15:50892818-50892819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571766514	chr15:50892826-50892827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73395550	chr15:50892871-50892872	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553796914	chr15:50892928-50892929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528694666	chr15:50892932-50892933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533322672	chr15:50892943-50892944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11634859	chr15:50892945-50892946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535972883	chr15:50892990-50892991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562266038	chr15:50893060-50893061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192172281	chr15:50893097-50893098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575674874	chr15:50893113-50893114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4775892	chr15:50893114-50893115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17520273	chr15:50893136-50893137	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576926912	chr15:50893204-50893205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540882548	chr15:50893220-50893221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560541519	chr15:50893223-50893224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527763706	chr15:50893225-50893226	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184542155	chr15:50893227-50893228	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145286178	chr15:50893246-50893247	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531612532	chr15:50893247-50893248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550409007	chr15:50893276-50893277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147225432	chr15:50893277-50893278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189462976	chr15:50893293-50893294	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs140469812	chr15:50893373-50893374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72740438	chr15:50893383-50893384	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535936519	chr15:50893413-50893414	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371566912	chr15:50893471-50893472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550113470	chr15:50893473-50893474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547926222	chr15:50893476-50893477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50847000-50920600	Weak transcription	Aorta	Aorta
3	chr15:50848800-50894800	Strong transcription	Liver	Liver
4	chr15:50849000-50894600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:50851800-50936400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:50852000-50897400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:50852200-50896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:50852800-50893200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:50855600-50907200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:50855600-50919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:50856400-50892600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:50859600-50916600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:50861000-50893600	Strong transcription	Placenta	Placenta
16	chr15:50864000-50907400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:50864200-50893800	Strong transcription	Osteobl	bone
18	chr15:50867400-50894800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:50867400-50908200	Weak transcription	Stomach Mucosa	stomach
20	chr15:50869200-50892400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:50869800-50893400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:50869800-50905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:50869800-50922800	Weak transcription	Gastric	stomach
24	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:50874000-50892400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:50876400-50897600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:50877800-50893000	Strong transcription	NHDF-Ad	bronchial
29	chr15:50878800-50922200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:50879200-50894800	Weak transcription	Colonic Mucosa	Colon
31	chr15:50879800-50893600	Strong transcription	Adipose Nuclei	Adipose
32	chr15:50880400-50935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:50883800-50900600	Weak transcription	Brain Angular Gyrus	brain
34	chr15:50884000-50899800	Weak transcription	Lung	lung
35	chr15:50884000-50920600	Weak transcription	Spleen	Spleen
36	chr15:50884000-50923000	Weak transcription	Pancreas	Pancrea
37	chr15:50884600-50894600	Weak transcription	Fetal Brain Female	brain
38	chr15:50884800-50894600	Weak transcription	Fetal Heart	heart
39	chr15:50884800-50920600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:50885400-50894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:50885400-50903600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:50885400-50913800	Weak transcription	Small Intestine	intestine
43	chr15:50885400-50919000	Weak transcription	Brain Anterior Caudate	brain
44	chr15:50885400-50921400	Weak transcription	Esophagus	oesophagus
45	chr15:50886200-50903000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:50886400-50894600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:50886400-50916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:50886600-50896600	Weak transcription	HSMMtube	muscle
49	chr15:50886600-50903200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:50886800-50894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links