Variant report

Variant	esv3391323
Chromosome Location	chr15:59066469-59066695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59064062..59066974-chr15:59068078..59069600,2	MCF-7	breast:
2	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
3	chr15:59002723..59004883-chr15:59065189..59066915,2	K562	blood:
4	chr15:59065749..59068993-chr15:59071498..59074723,3	K562	blood:

Variant related genes	Relation type
ENSG00000137845	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561106729	chr15:59066533-59066534	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11630503	chr15:59066539-59066540	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570857422	chr15:59066613-59066614	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539635499	chr15:59066632-59066633	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570064383	chr15:59066640-59066641	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs8025383	chr15:59066676-59066677	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113171003	chr15:59066691-59066692	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11385535	chr15:59066692-59066693	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
2	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:59062400-59067400	Active TSS	Right Atrium	heart
4	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:59062800-59066800	Active TSS	NHDF-Ad	bronchial
6	chr15:59062800-59067000	Active TSS	Stomach Smooth Muscle	stomach
7	chr15:59063000-59067400	Active TSS	NHEK	skin
8	chr15:59064600-59067200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:59064600-59069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:59064600-59102800	Weak transcription	Lung	lung
13	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
14	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
15	chr15:59064600-59145600	Weak transcription	Gastric	stomach
16	chr15:59064800-59066600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr15:59064800-59067200	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:59064800-59067600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:59065000-59069000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr15:59065200-59066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:59065200-59067000	Enhancers	Liver	Liver
23	chr15:59065200-59067200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr15:59065200-59069600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:59065400-59066600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:59065400-59066600	Flanking Active TSS	HepG2	liver
28	chr15:59065400-59068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:59065600-59066600	Enhancers	Spleen	Spleen
30	chr15:59065600-59068600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:59065800-59066600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:59065800-59066800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:59065800-59067000	Enhancers	Rectal Smooth Muscle	rectum
35	chr15:59065800-59067000	Enhancers	Hela-S3	cervix
36	chr15:59065800-59067200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:59065800-59067200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr15:59065800-59067400	Enhancers	Colon Smooth Muscle	Colon
39	chr15:59065800-59067800	Weak transcription	Small Intestine	intestine
40	chr15:59065800-59068400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:59065800-59069800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:59065800-59077800	Weak transcription	Psoas Muscle	Psoas
43	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
44	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
46	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:59065800-59103200	Weak transcription	NH-A	brain
48	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
49	chr15:59066000-59066600	Enhancers	Left Ventricle	heart
50	chr15:59066000-59066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links