Variant report

Variant	esv3451604
Chromosome Location	chr15:72599249-72599831
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	chr15:72598397-72599331	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr15:72598334-72599903	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:72599335-72599800	H1-neurons	neurons:	n/a	n/a
4	REST	chr15:72597881-72600092	H1-neurons	neurons:	n/a	chr15:72599014-72599027 chr15:72598868-72598881
5	RFX5	chr15:72598399-72599314	SK-N-SH	brain:	n/a	chr15:72598757-72598772 chr15:72598809-72598824 chr15:72598785-72598800 chr15:72598782-72598799 chr15:72598757-72598772 chr15:72598783-72598798 chr15:72598783-72598798 chr15:72598808-72598825 chr15:72598809-72598824 chr15:72598809-72598824
6	USF1	chr15:72599405-72599561	K562	blood:	n/a	chr15:72599496-72599509
7	ZNF263	chr15:72599073-72599413	HEK293-T-REx	kidney:	n/a	chr15:72599172-72599193

No.	Distal block	Cell Line	Cell type
1	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
2	chr15:72597786..72600011-chr15:72766508..72768760,2	K562	blood:
3	chr15:72599410..72601357-chr15:72604613..72606396,2	MCF-7	breast:
4	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:
5	chr15:72562781..72564885-chr15:72599473..72602023,2	MCF-7	breast:

Variant related genes	Relation type
CELF6	TF binding region
ENSG00000166233	chromatin interactions
ENSG00000137817	chromatin interactions
ENSG00000261423	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370147680	chr15:72599269-72599270	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs189368371	chr15:72599293-72599294	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs180934211	chr15:72599313-72599314	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs2959929	chr15:72599343-72599344	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2959928	chr15:72599411-72599412	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186098281	chr15:72599426-72599427	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs542767926	chr15:72599445-72599446	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560919927	chr15:72599456-72599457	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs547257982	chr15:72599487-72599488	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531547096	chr15:72599494-72599495	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550041024	chr15:72599502-72599503	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs59262103	chr15:72599557-72599558	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532338674	chr15:72599561-72599562	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs547636028	chr15:72599572-72599573	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565960623	chr15:72599573-72599574	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs61100297	chr15:72599579-72599580	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554650242	chr15:72599626-72599627	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs569854703	chr15:72599647-72599648	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537141427	chr15:72599682-72599683	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs370551802	chr15:72599731-72599732	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs115000115	chr15:72599763-72599764	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs189435933	chr15:72599779-72599780	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs535025695	chr15:72599808-72599809	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	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
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
2	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
4	chr15:72578000-72611800	Weak transcription	Ovary	ovary
5	chr15:72579600-72602400	Weak transcription	Primary T cells from cord blood	blood
6	chr15:72582000-72608000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:72582000-72611800	Weak transcription	Spleen	Spleen
8	chr15:72583800-72611600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72590200-72604800	Weak transcription	Aorta	Aorta
10	chr15:72590600-72607600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:72590800-72602000	Weak transcription	Left Ventricle	heart
12	chr15:72595400-72604600	Weak transcription	Lung	lung
13	chr15:72596000-72612400	Weak transcription	Adipose Nuclei	Adipose
14	chr15:72597000-72600400	Enhancers	Fetal Brain Male	brain
15	chr15:72597600-72600400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:72597600-72605800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:72598000-72600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:72598000-72600000	Enhancers	Brain Angular Gyrus	brain
19	chr15:72598200-72599800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:72598200-72600000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:72598400-72599400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:72598800-72599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:72598800-72599400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:72598800-72599600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:72599000-72599400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:72599000-72599400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:72599000-72599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:72599000-72599400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:72599000-72599400	Flanking Active TSS	Fetal Brain Female	brain
30	chr15:72599000-72599600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr15:72599000-72599600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:72599200-72599400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr15:72599200-72600000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:72599200-72611400	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:72599200-72611600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:72599400-72599600	Enhancers	Brain Anterior Caudate	brain
37	chr15:72599400-72600200	Enhancers	Fetal Brain Female	brain
38	chr15:72599400-72610800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:72599600-72600000	Weak transcription	Brain Anterior Caudate	brain
40	chr15:72599600-72600200	Enhancers	Brain Germinal Matrix	brain

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