Variant report

Variant	esv2080287
Chromosome Location	chr15:74164013-74164575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr15:74163152-74164040	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STOML1-2	chr15:74164284-74164348	ENSG00000260624.1
2	lnc-STOML1-2	chr15:74164284-74164444	ENSG00000260624.1
3	lnc-STOML1-2	chr15:74164284-74164444	NONHSAT047167
4	lnc-STOML1-2	chr15:74164281-74164444	NONHSAT047170
5	lnc-STOML1-2	chr15:74164341-74164444	NONHSAT047166

No data

Variant related genes	Relation type
TBC1D21	TF binding region
ENSG00000260624	TF binding region
ENSG00000261801	chromatin interactions
ENSG00000129038	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7163502	chr15:74164031-74164032	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143424273	chr15:74164054-74164055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147849911	chr15:74164127-74164128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs58741322	chr15:74164133-74164134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370171675	chr15:74164157-74164158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189463008	chr15:74164171-74164172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568662275	chr15:74164172-74164173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376428202	chr15:74164204-74164205	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386785344	chr15:74164206-74164207	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372638011	chr15:74164207-74164208	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375987203	chr15:74164208-74164209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535837654	chr15:74164247-74164248	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550740484	chr15:74164285-74164286	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs8025389	chr15:74164331-74164332	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs192278018	chr15:74164365-74164366	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs147130492	chr15:74164384-74164385	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs58309771	chr15:74164389-74164390	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558305379	chr15:74164394-74164395	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs78009024	chr15:74164426-74164427	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs534822959	chr15:74164467-74164468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74023587	chr15:74164471-74164472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184474025	chr15:74164482-74164483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148802547	chr15:74164509-74164510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563163723	chr15:74164525-74164526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142444651	chr15:74164553-74164554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Gastrointestinal stromal cancer	20877625	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74154800-74167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:74158600-74164600	Enhancers	Right Atrium	heart
3	chr15:74161600-74164600	Enhancers	Right Ventricle	heart
4	chr15:74162600-74164600	Enhancers	Fetal Intestine Large	intestine
5	chr15:74162600-74164800	Enhancers	Fetal Intestine Small	intestine
6	chr15:74163000-74164600	Enhancers	Stomach Mucosa	stomach
7	chr15:74163000-74164600	Enhancers	Thymus	Thymus
8	chr15:74163200-74164400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:74163200-74164400	Enhancers	Fetal Heart	heart
10	chr15:74163200-74164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:74163400-74164400	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:74163600-74164600	Enhancers	Duodenum Mucosa	Duodenum
13	chr15:74163600-74164800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:74163600-74165200	Enhancers	Osteobl	bone
15	chr15:74163600-74165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:74163800-74164600	Weak transcription	Left Ventricle	heart
17	chr15:74163800-74164600	Weak transcription	Pancreas	Pancrea
18	chr15:74163800-74164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:74164200-74164400	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr15:74164400-74165200	Enhancers	NHDF-Ad	bronchial

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