Variant report

Variant	esv1799961
Chromosome Location	chr15:42522773-42545863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr15:42544053-42544417	K562	blood:	n/a	n/a
2	CTCF	chr15:42540473-42540589	LNCaP	prostate:	n/a	n/a
3	CTCF	chr15:42534420-42534570	GM06990	blood:	n/a	n/a
4	E2F6	chr15:42544123-42544391	K562	blood:	n/a	n/a
5	E2F6	chr15:42544054-42544412	H1-hESC	embryonic stem cell:	n/a	n/a
6	FAM48A	chr15:42525766-42525883	GM12878	blood:	n/a	n/a
7	FOS	chr15:42537378-42537663	MCF10A-Er-Src	breast:	n/a	chr15:42537408-42537416
8	FOS	chr15:42537353-42537633	MCF10A-Er-Src	breast:	n/a	chr15:42537408-42537416
9	GATA3	chr15:42522571-42523119	SH-SY5Y	brain:	n/a	chr15:42522791-42522800
10	GTF2F1	chr15:42544159-42544205	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFF	chr15:42543332-42543466	HepG2	liver:	n/a	n/a
12	MAFK	chr15:42543304-42543478	HepG2	liver:	n/a	n/a
13	MAFK	chr15:42533044-42533280	HepG2	liver:	n/a	n/a
14	MAFK	chr15:42536269-42536326	HepG2	liver:	n/a	n/a
15	MYC	chr15:42545185-42545191	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFIC	chr15:42528452-42528821	ECC-1	luminal epithelium:	n/a	chr15:42528656-42528673 chr15:42528665-42528681 chr15:42528664-42528681 chr15:42528656-42528672
17	POLR2A	chr15:42530406-42530575	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:42544154-42544196	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:42545078-42545716	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:42544033-42544617	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:42538190-42538359	A549	lung:	n/a	n/a
22	POLR2A	chr15:42532502-42532593	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:42544128-42544301	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:42530825-42530915	Gliobla	brain:	n/a	n/a
25	POLR2A	chr15:42537284-42537289	HepG2	liver:	n/a	n/a
26	POLR2A	chr15:42544019-42544403	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:42527391-42527773	K562	blood:	n/a	n/a
28	POLR2A	chr15:42545608-42545893	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:42544364-42544595	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr15:42530433-42530527	HepG2	liver:	n/a	n/a
31	SPI1	chr15:42540381-42540578	K562	blood:	n/a	n/a
32	SPI1	chr15:42540394-42540526	K562	blood:	n/a	n/a
33	SPI1	chr15:42540286-42540623	GM12891	blood:	n/a	n/a
34	SPI1	chr15:42540372-42540520	GM12878	blood:	n/a	n/a
35	SPI1	chr15:42540298-42540535	GM12891	blood:	n/a	n/a
36	STAT3	chr15:42536118-42536365	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr15:42537337-42537650	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr15:42537342-42537573	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr15:42532562-42532829	HepG2	liver:	n/a	n/a
40	ZC3H11A	chr15:42535515-42535532	K562	blood:	n/a	n/a
41	ZNF143	chr15:42544232-42544315	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42544904..42547005-chr15:42561537..42563318,2	K562	blood:
2	chr15:42523615..42525388-chr15:42565299..42567671,2	K562	blood:
3	chr15:42533593..42536142-chr15:42545624..42547945,2	K562	blood:
4	chr15:42519855..42522607-chr15:42524004..42525780,2	K562	blood:
5	chr15:42515383..42517801-chr15:42527177..42529552,2	K562	blood:
6	chr15:42533593..42536142-chr15:42545624..42547945,2	K562	blood:
7	chr15:42544015..42546634-chr15:42547457..42549970,2	K562	blood:
8	chr15:42532284..42534911-chr15:42549043..42552041,2	K562	blood:
9	chr15:42545753..42549905-chr15:42563424..42566580,4	K562	blood:
10	chr15:42498973..42502345-chr15:42523295..42525097,3	K562	blood:
11	chr15:42518203..42520282-chr15:42521732..42524296,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TMEM87A	hsa-miR-30a-5p	chr15:42525358-42525378

Variant related genes	Relation type
TMEM87A	TF binding region
ENSG00000103978	chromatin interactions
ENSG00000261002	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000166887	chromatin interactions

Extended variants
information (count: 852 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10518756	chr15:42522792-42522793	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540251738	chr15:42522869-42522870	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143605570	chr15:42522879-42522880	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532864178	chr15:42522904-42522905	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552547656	chr15:42522942-42522943	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368776277	chr15:42522962-42522963	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190888728	chr15:42523068-42523069	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576924514	chr15:42523129-42523130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540869153	chr15:42523148-42523149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1712418	chr15:42523171-42523172	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568237642	chr15:42523209-42523210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533995829	chr15:42523212-42523213	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369314626	chr15:42523341-42523342	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs397725100	chr15:42523342-42523343	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4924634	chr15:42523343-42523344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201755386	chr15:42523345-42523346	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371411981	chr15:42523364-42523365	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200150507	chr15:42523370-42523371	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs367587063	chr15:42523490-42523491	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201449697	chr15:42523500-42523501	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1712419	chr15:42523518-42523519	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570468233	chr15:42523631-42523632	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs538973077	chr15:42523682-42523683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs376843217	chr15:42523758-42523759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs372093492	chr15:42523779-42523780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs181738238	chr15:42523792-42523793	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs537620040	chr15:42523814-42523815	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs111873234	chr15:42523818-42523819	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs574598000	chr15:42523946-42523947	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs540289174	chr15:42523957-42523958	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs148027353	chr15:42523964-42523965	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs576758984	chr15:42524057-42524058	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs1630294	chr15:42524065-42524066	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563020166	chr15:42524073-42524074	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs16972896	chr15:42524104-42524105	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147058251	chr15:42524117-42524118	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1712420	chr15:42524165-42524166	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372423882	chr15:42524190-42524191	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs375957495	chr15:42524200-42524201	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138419580	chr15:42524218-42524219	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7170518	chr15:42524322-42524323	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7169546	chr15:42524374-42524375	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs539435819	chr15:42524379-42524380	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs1712421	chr15:42524399-42524400	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572716553	chr15:42524431-42524432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs78460759	chr15:42524483-42524484	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs143830530	chr15:42524557-42524558	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs565387144	chr15:42524593-42524594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs185126806	chr15:42524613-42524614	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs532741688	chr15:42524672-42524673	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Intracranial arachnoid cysts	20187927	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42501000-42534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:42501000-42536600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42501000-42536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:42501000-42538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:42501200-42523200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:42501200-42532400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr15:42501800-42536800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:42502000-42535000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:42502200-42534000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:42502200-42536600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:42502800-42535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:42502800-42536400	Strong transcription	Fetal Muscle Leg	muscle
14	chr15:42503200-42544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:42506800-42532000	Strong transcription	Placenta	Placenta
16	chr15:42508000-42532200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:42508200-42525000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:42509400-42535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:42511800-42536800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:42513200-42523600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:42513200-42532200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:42513800-42534800	Strong transcription	Liver	Liver
23	chr15:42514000-42523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:42514000-42526600	Strong transcription	Left Ventricle	heart
25	chr15:42514000-42534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:42514000-42535200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:42514200-42523400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:42514200-42524200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr15:42514200-42526600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:42514200-42527000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:42514200-42532400	Strong transcription	Adipose Nuclei	Adipose
32	chr15:42514200-42535200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:42514200-42535200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:42514400-42531800	Strong transcription	Primary T cells from cord blood	blood
35	chr15:42514400-42533600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:42514400-42534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:42514400-42535000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:42514400-42535000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr15:42514400-42537200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:42514600-42523800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:42514600-42523800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:42514600-42535000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:42514800-42532000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:42515000-42535400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:42515000-42544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr15:42515200-42523200	Strong transcription	Osteobl	bone
49	chr15:42515200-42526400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr15:42515200-42526800	Strong transcription	Brain Anterior Caudate	brain

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