Variant report

Variant	esv3396106
Chromosome Location	chr15:50893660-50897858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:7 , 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	POLR2A	chr15:50894781-50895164	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:50894958-50894969	ProgFib	skin:	n/a	n/a
5	POLR2A	chr15:50894868-50895277	K562	blood:	n/a	n/a
6	POLR2A	chr15:50894722-50894823	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr15:50894691-50895434	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50889435..50893254-chr15:50893944..50897716,3	K562	blood:
2	chr15:50645917..50650602-chr15:50893213..50896172,4	MCF-7	breast:
3	chr15:50897808..50900573-chr15:50902086..50904020,3	K562	blood:
4	chr15:50894679..50897378-chr15:50902879..50904659,2	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRPM7	hsa-miR-10a-5p	chr15:50896593-50896615
2	TRPM7	hsa-miR-10a-5p	chr15:50896505-50896530

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

Extended variants
information (count: 173 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs181381797	chr15:50893708-50893709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199795963	chr15:50893730-50893731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543097086	chr15:50893773-50893774	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533983608	chr15:50893813-50893814	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112935953	chr15:50893825-50893826	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184497124	chr15:50893859-50893860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576353025	chr15:50893866-50893867	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543475798	chr15:50893870-50893871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565311388	chr15:50893894-50893895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532681209	chr15:50893941-50893942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547726273	chr15:50893972-50893973	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559520826	chr15:50893982-50893983	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187076808	chr15:50894025-50894026	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191849250	chr15:50894033-50894034	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7166975	chr15:50894040-50894041	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547838442	chr15:50894057-50894058	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12906100	chr15:50894078-50894079	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569665210	chr15:50894111-50894112	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537021072	chr15:50894133-50894134	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs77599162	chr15:50894153-50894154	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs189253803	chr15:50894156-50894157	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4509958	chr15:50894175-50894176	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534603475	chr15:50894217-50894218	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs142581200	chr15:50894243-50894244	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574644641	chr15:50894272-50894273	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181601691	chr15:50894280-50894281	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs12905255	chr15:50894298-50894299	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12905122	chr15:50894314-50894315	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs12905540	chr15:50894315-50894316	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs186296534	chr15:50894336-50894337	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576439483	chr15:50894347-50894348	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs150925311	chr15:50894388-50894389	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565127323	chr15:50894436-50894437	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577216947	chr15:50894490-50894491	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541283743	chr15:50894496-50894497	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201278402	chr15:50894525-50894526	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs140822647	chr15:50894533-50894534	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530195336	chr15:50894540-50894541	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs145864877	chr15:50894591-50894592	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs138483520	chr15:50894607-50894608	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530505729	chr15:50894691-50894692	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs552289307	chr15:50894750-50894751	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551953208	chr15:50894774-50894775	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs528103415	chr15:50894818-50894819	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs546882838	chr15:50894824-50894825	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs28657876	chr15:50894839-50894840	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535777875	chr15:50894870-50894871	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs556863880	chr15:50894873-50894874	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs569076555	chr15:50894882-50894883	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs117781047	chr15:50894895-50894896	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 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:262 , 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	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:50855600-50907200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:50855600-50919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:50859600-50916600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr15:50864000-50907400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:50864200-50893800	Strong transcription	Osteobl	bone
15	chr15:50867400-50894800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:50867400-50908200	Weak transcription	Stomach Mucosa	stomach
17	chr15:50869800-50905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:50869800-50922800	Weak transcription	Gastric	stomach
19	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:50876400-50897600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:50878800-50922200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:50879200-50894800	Weak transcription	Colonic Mucosa	Colon
24	chr15:50880400-50935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:50883800-50900600	Weak transcription	Brain Angular Gyrus	brain
26	chr15:50884000-50899800	Weak transcription	Lung	lung
27	chr15:50884000-50920600	Weak transcription	Spleen	Spleen
28	chr15:50884000-50923000	Weak transcription	Pancreas	Pancrea
29	chr15:50884600-50894600	Weak transcription	Fetal Brain Female	brain
30	chr15:50884800-50894600	Weak transcription	Fetal Heart	heart
31	chr15:50884800-50920600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:50885400-50894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:50885400-50903600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:50885400-50913800	Weak transcription	Small Intestine	intestine
35	chr15:50885400-50919000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:50885400-50921400	Weak transcription	Esophagus	oesophagus
37	chr15:50886200-50903000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:50886400-50894600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:50886400-50916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:50886600-50896600	Weak transcription	HSMMtube	muscle
41	chr15:50886600-50903200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr15:50886800-50894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:50887200-50894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:50887200-50918800	Weak transcription	Brain Germinal Matrix	brain
45	chr15:50887400-50898200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:50887400-50900200	Weak transcription	NHEK	skin
47	chr15:50887800-50894600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:50889200-50894800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:50889400-50899200	Weak transcription	HepG2	liver
50	chr15:50889600-50893800	Strong transcription	Duodenum Mucosa	Duodenum

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