Variant report

Variant	esv3467783
Chromosome Location	chr4:15739200-15739438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15655679..15657937-chr4:15737188..15739918,2	K562	blood:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547376647	chr4:15739226-15739227	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572743961	chr4:15739235-15739236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147256630	chr4:15739254-15739255	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536523128	chr4:15739267-15739268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12646913	chr4:15739276-15739277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573595830	chr4:15739327-15739328	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542559560	chr4:15739344-15739345	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140606737	chr4:15739370-15739371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149752494	chr4:15739377-15739378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540342943	chr4:15739379-15739380	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4263397	chr4:15739390-15739391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4530626	chr4:15739413-15739414	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3900588	chr4:15739416-15739417	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144539516	chr4:15739419-15739420	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4320134	chr4:15739428-15739429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:15708800-15739400	Weak transcription	Ovary	ovary
3	chr4:15723000-15743000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:15723000-15744600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:15726000-15740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:15727400-15740400	Weak transcription	Fetal Intestine Large	intestine
7	chr4:15729000-15743200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:15733600-15742800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:15735400-15742800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:15735800-15740200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:15736400-15739200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:15737800-15739200	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:15737800-15740400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:15738400-15742600	Enhancers	Dnd41	blood
15	chr4:15738600-15739400	Enhancers	Thymus	Thymus
16	chr4:15738800-15739200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:15738800-15739800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:15739000-15739200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr4:15739000-15739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:15739000-15739400	Enhancers	Fetal Thymus	thymus
21	chr4:15739000-15739600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:15739000-15739800	Strong transcription	Fetal Intestine Small	intestine
23	chr4:15739200-15739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:15739200-15739600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:15739400-15739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:15739400-15740400	Weak transcription	Thymus	Thymus

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