Variant report

Variant	esv3336443
Chromosome Location	chr15:74716513-74716691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:74665724..74666602-chr15:74716103..74717034,2	K562	blood:
2	chr15:74682079..74683871-chr15:74715405..74717396,2	MCF-7	breast:
3	chr15:74716409..74721225-chr15:74724454..74727081,9	K562	blood:
4	chr15:74706547..74708360-chr15:74715336..74717632,2	K562	blood:
5	chr15:74712692..74714612-chr15:74714775..74716965,2	MCF-7	breast:
6	chr15:74710571..74713498-chr15:74715208..74717540,3	K562	blood:
7	chr15:74709055..74711069-chr15:74716225..74718265,2	MCF-7	breast:
8	chr15:74715079..74717127-chr15:74720885..74723638,2	MCF-7	breast:
9	chr15:74688261..74689838-chr15:74715380..74717091,2	K562	blood:
10	chr15:74675805..74678192-chr15:74715315..74717229,2	MCF-7	breast:
11	chr15:74715058..74717919-chr15:74753629..74755415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247240	chromatin interactions
ENSG00000138623	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183912035	chr15:74716518-74716519	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550899916	chr15:74716526-74716527	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569083679	chr15:74716580-74716581	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533463447	chr15:74716603-74716604	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs8036030	chr15:74716609-74716610	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
6	rs79494203	chr15:74716675-74716676	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs8036474	chr15:74716690-74716691	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
2	chr15:74707200-74722400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:74707800-74718000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:74708000-74717600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:74708400-74722400	Genic enhancers	Fetal Thymus	thymus
6	chr15:74709000-74717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:74709200-74720200	Weak transcription	Esophagus	oesophagus
8	chr15:74709200-74720800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
10	chr15:74709400-74718000	Enhancers	HSMMtube	muscle
11	chr15:74709600-74718200	Enhancers	HMEC	breast
12	chr15:74709800-74718000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:74710000-74722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:74710200-74718200	Enhancers	NHDF-Ad	bronchial
15	chr15:74710200-74718400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:74710200-74722000	Weak transcription	Dnd41	blood
17	chr15:74710400-74718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:74710400-74721200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:74710400-74722800	Enhancers	Brain Hippocampus Middle	brain
20	chr15:74711000-74718400	Enhancers	Brain Anterior Caudate	brain
21	chr15:74711000-74721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:74711000-74723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:74711000-74723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:74711400-74717000	Enhancers	Fetal Brain Female	brain
25	chr15:74711400-74717600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr15:74711400-74719000	Enhancers	Placenta	Placenta
27	chr15:74711800-74716600	Enhancers	Primary B cells from peripheral blood	blood
28	chr15:74711800-74717800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr15:74712400-74716600	Enhancers	K562	blood
30	chr15:74712400-74717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:74712400-74718000	Enhancers	Ovary	ovary
32	chr15:74712600-74716600	Enhancers	Right Atrium	heart
33	chr15:74712600-74716800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:74712600-74717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:74712600-74718200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:74712800-74716600	Genic enhancers	Thymus	Thymus
37	chr15:74713000-74724000	Weak transcription	Gastric	stomach
38	chr15:74713200-74716600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr15:74713200-74717400	Enhancers	Fetal Muscle Leg	muscle
40	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr15:74713400-74718000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:74713400-74724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:74713600-74717400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:74713600-74718600	Enhancers	Brain Substantia Nigra	brain
46	chr15:74714200-74716800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:74714200-74717000	Enhancers	NHLF	lung
48	chr15:74714200-74717800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:74714400-74716800	Enhancers	Primary B cells from cord blood	blood
50	chr15:74714400-74717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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