Variant report

Variant	esv3366114
Chromosome Location	chr15:78322913-78323425
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	POLR2A	chr15:78322988-78323188	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:78322788-78322940	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78323235..78324806-chr15:78328346..78331306,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D2B	TF binding region
ENSG00000221476	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138154723	chr15:78322913-78322914	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141728760	chr15:78322937-78322938	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs207475609	chr15:78322942-78322943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534083475	chr15:78322970-78322971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549039533	chr15:78322978-78322979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113706604	chr15:78323096-78323097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537668607	chr15:78323127-78323128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28526757	chr15:78323149-78323150	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556767917	chr15:78323177-78323178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138633848	chr15:78323218-78323219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553721149	chr15:78323252-78323253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551171090	chr15:78323294-78323295	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374548583	chr15:78323303-78323304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576573752	chr15:78323325-78323326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368713644	chr15:78323339-78323340	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55704745	chr15:78323375-78323376	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149317226	chr15:78323381-78323382	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 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
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78301400-78342200	Weak transcription	HMEC	breast
3	chr15:78303200-78342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:78305400-78329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78305600-78325800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:78307200-78342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78308800-78327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:78309200-78330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:78309200-78330800	Weak transcription	A549	lung
10	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:78311800-78323400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:78311800-78326800	Weak transcription	K562	blood
13	chr15:78312000-78323000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:78312200-78323200	Strong transcription	Fetal Intestine Large	intestine
15	chr15:78312400-78323200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:78312600-78323200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:78312600-78323400	Strong transcription	Dnd41	blood
18	chr15:78312600-78323400	Strong transcription	Osteobl	bone
19	chr15:78312800-78323200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:78313000-78327600	Weak transcription	Fetal Brain Male	brain
21	chr15:78316000-78324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:78316000-78332400	Weak transcription	Hela-S3	cervix
23	chr15:78316200-78323200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:78316200-78324600	Strong transcription	Fetal Intestine Small	intestine
25	chr15:78316200-78326200	Weak transcription	Fetal Kidney	kidney
26	chr15:78317000-78324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:78317000-78327800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:78317200-78324000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:78317400-78323200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:78317400-78324200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:78317400-78326000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:78317400-78326200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:78317600-78324600	Strong transcription	Liver	Liver
36	chr15:78317600-78326800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:78317600-78327000	Weak transcription	NH-A	brain
38	chr15:78317600-78327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:78317800-78323200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:78317800-78323200	Strong transcription	Fetal Thymus	thymus
41	chr15:78317800-78323600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:78317800-78324200	Weak transcription	Brain Angular Gyrus	brain
43	chr15:78317800-78324200	Weak transcription	Right Ventricle	heart
44	chr15:78317800-78324600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:78317800-78326400	Weak transcription	Gastric	stomach
46	chr15:78317800-78326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:78317800-78326600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:78317800-78326600	Weak transcription	Spleen	Spleen
49	chr15:78317800-78331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell

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