Variant report

Variant	esv2761666
Chromosome Location	chr15:34275262-34279231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:34276774-34277065	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:34277587-34277835	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr15:34277554-34277832	HepG2	liver:	n/a	n/a
4	CEBPB	chr15:34277504-34277907	IMR90	lung:	n/a	n/a
5	GATA2	chr15:34278017-34278310	SH-SY5Y	brain:	n/a	chr15:34278148-34278159
6	GATA3	chr15:34277911-34278202	SH-SY5Y	brain:	n/a	chr15:34278148-34278159
7	GATA3	chr15:34277506-34278356	SK-N-SH	brain:	n/a	chr15:34278148-34278159
8	GATA3	chr15:34278011-34278230	T-47D	breast:	n/a	chr15:34278148-34278159
9	GATA3	chr15:34277408-34278313	SK-N-SH	brain:	n/a	chr15:34278148-34278159
10	GATA3	chr15:34277698-34278327	MCF-7	breast:	n/a	chr15:34278148-34278159
11	JUND	chr15:34277531-34277859	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr15:34277362-34278262	SK-N-SH	brain:	n/a	n/a
13	NR3C1	chr15:34277487-34277658	A549	lung:	n/a	n/a
14	NR3C1	chr15:34277331-34277850	A549	lung:	n/a	n/a
15	NR3C1	chr15:34277325-34277839	A549	lung:	n/a	n/a
16	NR3C1	chr15:34277607-34277814	ECC-1	luminal epithelium:	n/a	n/a
17	PBX3	chr15:34277558-34277936	SK-N-SH	brain:	n/a	n/a
18	RUNX3	chr15:34276797-34277254	GM12878	blood:	n/a	chr15:34277035-34277044 chr15:34277035-34277044
19	STAT3	chr15:34277546-34277816	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr15:34277580-34277815	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF12	chr15:34277426-34278294	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr15:34277619-34277942	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr15:34277595-34277963	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr15:34277568-34278044	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000259505	TF binding region

Extended variants
information (count: 226 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6495419	chr15:34275262-34275263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566569385	chr15:34275269-34275270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150920153	chr15:34275288-34275289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375541336	chr15:34275293-34275294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142651010	chr15:34275299-34275300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374213068	chr15:34275330-34275331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12594950	chr15:34275347-34275348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112045057	chr15:34275349-34275350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145391998	chr15:34275351-34275352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145851379	chr15:34275353-34275354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144635315	chr15:34275355-34275356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11633066	chr15:34275361-34275362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577481496	chr15:34275362-34275363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11637596	chr15:34275363-34275364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112286325	chr15:34275366-34275367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11633070	chr15:34275373-34275374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561757870	chr15:34275376-34275377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11637882	chr15:34275380-34275381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536612414	chr15:34275384-34275385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12916228	chr15:34275386-34275387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375971834	chr15:34275388-34275389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12912120	chr15:34275393-34275394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12910307	chr15:34275395-34275396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575082739	chr15:34275406-34275407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371298232	chr15:34275412-34275413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148035145	chr15:34275416-34275417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542784178	chr15:34275420-34275421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560975111	chr15:34275422-34275423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572929339	chr15:34275424-34275425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575460510	chr15:34275433-34275434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539869646	chr15:34275434-34275435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189196375	chr15:34275448-34275449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200463702	chr15:34275455-34275456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201533695	chr15:34275456-34275457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202142171	chr15:34275457-34275458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200347258	chr15:34275459-34275460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59951787	chr15:34275462-34275463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182235613	chr15:34275492-34275493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550831914	chr15:34275520-34275521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550572917	chr15:34275537-34275538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16954025	chr15:34275568-34275569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529833069	chr15:34275571-34275572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533888024	chr15:34275626-34275627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16954030	chr15:34275693-34275694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551215783	chr15:34275724-34275725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374733544	chr15:34275744-34275745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534273887	chr15:34275775-34275776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375807064	chr15:34275837-34275838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138243340	chr15:34275839-34275840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538198752	chr15:34275860-34275861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34236800-34277200	Weak transcription	Left Ventricle	heart
2	chr15:34238000-34282400	Weak transcription	Ovary	ovary
3	chr15:34261200-34277200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:34263800-34277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:34264400-34277000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:34264800-34281200	Weak transcription	GM12878-XiMat	blood
7	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
9	chr15:34265400-34311800	Weak transcription	Liver	Liver
10	chr15:34269800-34275600	Weak transcription	Brain Angular Gyrus	brain
11	chr15:34270000-34276800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:34270200-34277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:34271600-34277200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:34271600-34277400	Weak transcription	Pancreas	Pancrea
15	chr15:34273000-34277600	Weak transcription	NHEK	skin
16	chr15:34273200-34275800	Weak transcription	Brain Substantia Nigra	brain
17	chr15:34274000-34277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:34274000-34277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:34274000-34277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:34274000-34277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:34274200-34275800	Weak transcription	Aorta	Aorta
22	chr15:34274200-34277400	Weak transcription	NHLF	lung
23	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:34274600-34276800	Weak transcription	Placenta	Placenta
25	chr15:34275200-34277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood
27	chr15:34275600-34276200	Enhancers	Brain Angular Gyrus	brain
28	chr15:34275600-34276400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:34275800-34276000	Enhancers	Aorta	Aorta
30	chr15:34275800-34276400	Enhancers	Brain Substantia Nigra	brain
31	chr15:34276000-34277000	Weak transcription	Aorta	Aorta
32	chr15:34276200-34277200	Weak transcription	Brain Angular Gyrus	brain
33	chr15:34276400-34276800	Weak transcription	Brain Substantia Nigra	brain
34	chr15:34276400-34277200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:34276800-34277600	Enhancers	HepG2	liver
36	chr15:34276800-34278200	Enhancers	Brain Cingulate Gyrus	brain
37	chr15:34276800-34278200	Enhancers	Brain Substantia Nigra	brain
38	chr15:34276800-34278400	Enhancers	Brain Hippocampus Middle	brain
39	chr15:34276800-34278400	Enhancers	Placenta	Placenta
40	chr15:34277000-34277200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:34277000-34277200	Enhancers	HMEC	breast
42	chr15:34277000-34277400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:34277000-34277400	Enhancers	Aorta	Aorta
44	chr15:34277000-34277400	Enhancers	Osteobl	bone
45	chr15:34277000-34277800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:34277000-34278000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:34277000-34278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:34277000-34278000	Enhancers	Adipose Nuclei	Adipose
49	chr15:34277000-34278000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr15:34277000-34278200	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links