Variant report

Variant	esv3345574
Chromosome Location	chr3:112528036-112528468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112524726..112527255-chr3:112527915..112530520,3	MCF-7	breast:
2	chr3:112527413..112529549-chr3:112531085..112533830,2	MCF-7	breast:
3	chr3:112358562..112362262-chr3:112527434..112530511,3	MCF-7	breast:
4	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
5	chr3:112519716..112521811-chr3:112528431..112531172,2	MCF-7	breast:
6	chr3:112522965..112524945-chr3:112527402..112529255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	chromatin interactions
ENSG00000242770	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532615411	chr3:112528037-112528038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141149476	chr3:112528040-112528041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566048801	chr3:112528095-112528096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368932227	chr3:112528131-112528132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147360083	chr3:112528134-112528135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373186240	chr3:112528168-112528169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139544834	chr3:112528169-112528170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556955468	chr3:112528173-112528174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145097179	chr3:112528177-112528178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4682430	chr3:112528198-112528199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs553084012	chr3:112528211-112528212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572897028	chr3:112528338-112528339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147172861	chr3:112528342-112528343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530360862	chr3:112528343-112528344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139836274	chr3:112528422-112528423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4682431	chr3:112528441-112528442	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572151363	chr3:112528448-112528449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112521000-112529800	Weak transcription	A549	lung
2	chr3:112521600-112531600	Weak transcription	Stomach Mucosa	stomach
3	chr3:112524400-112528600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr3:112524800-112528600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:112526600-112529400	Weak transcription	NHDF-Ad	bronchial
6	chr3:112526600-112530800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:112526800-112529200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112526800-112529400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:112527000-112531000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:112527000-112531200	Weak transcription	Primary T cells from cord blood	blood
11	chr3:112527400-112530600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:112527400-112532600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:112527600-112530600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:112527600-112531000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:112528000-112528200	Enhancers	Colon Smooth Muscle	Colon
16	chr3:112528200-112529200	Weak transcription	Colon Smooth Muscle	Colon

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