Variant report

Variant	esv3397695
Chromosome Location	chr4:15731652-15732075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15731710..15732220-chr4:15957676..15958189,2	K562	blood:
2	chr4:15731303..15731853-chr4:15757889..15758739,2	MCF-7	breast:
3	chr4:15725851..15728771-chr4:15730886..15733232,2	K562	blood:
4	chr4:15683366..15684985-chr4:15730106..15732108,2	K562	blood:
5	chr4:15731707..15732212-chr4:15806910..15807470,2	K562	blood:

Variant related genes	Relation type
ENSG00000237765	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7672311	chr4:15731690-15731691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182831666	chr4:15731695-15731696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374476754	chr4:15731730-15731731	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186804882	chr4:15731802-15731803	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557594226	chr4:15731831-15731832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577547544	chr4:15731888-15731889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375813829	chr4:15731964-15731965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7656652	chr4:15731965-15731966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368009054	chr4:15731977-15731978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573936922	chr4:15732011-15732012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542953938	chr4:15732063-15732064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15705000-15735200	Weak transcription	Lung	lung
2	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:15708800-15739400	Weak transcription	Ovary	ovary
4	chr4:15709400-15731800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:15719400-15735800	Weak transcription	NHDF-Ad	bronchial
6	chr4:15719800-15736600	Weak transcription	Spleen	Spleen
7	chr4:15723000-15734600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:15723000-15743000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:15723000-15744600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:15724000-15732000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:15726000-15737400	Weak transcription	NHLF	lung
12	chr4:15726000-15740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:15727200-15731800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:15727200-15732800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:15727400-15740400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:15728000-15731800	Weak transcription	Thymus	Thymus
17	chr4:15728200-15731800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:15729000-15743200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:15731000-15732800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:15731200-15737200	Enhancers	Dnd41	blood
21	chr4:15731400-15732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:15731600-15732000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:15731600-15732400	Enhancers	Fetal Thymus	thymus
24	chr4:15731800-15732000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:15731800-15732000	Enhancers	Brain Angular Gyrus	brain
26	chr4:15731800-15732000	Enhancers	Brain Hippocampus Middle	brain
27	chr4:15731800-15732200	Enhancers	NHEK	skin
28	chr4:15731800-15732400	Enhancers	Primary T cells from cord blood	blood
29	chr4:15731800-15732400	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:15731800-15732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:15731800-15732400	Enhancers	Thymus	Thymus
32	chr4:15732000-15732400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:15732000-15732400	Enhancers	HMEC	breast
34	chr4:15732000-15738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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