Variant report

Variant	esv3450754
Chromosome Location	chr3:143572658-143572826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143572196..143573196-chr8:43094222..43095523,3	HCT-116	colon:
2	chr3:143572714..143574427-chr3:143574833..143577632,2	K562	blood:
3	chr1:225997868..225998526-chr3:143572696..143573196,2	K562	blood:
4	chr10:29692522..29694043-chr3:143572695..143574216,2	MCF-7	breast:
5	chr3:143572695..143573196-chr8:43096744..43097413,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235110	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139035376	chr3:143572669-143572670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184594496	chr3:143572717-143572718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1504602	chr3:143572719-143572720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56407400	chr3:143572734-143572735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569020972	chr3:143572742-143572743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6764661	chr3:143572786-143572787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554641931	chr3:143572807-143572808	Weak transcription Enhancers	Chromatin interactive region	1 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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143569200-143573000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:143569200-143573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:143569400-143573200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:143569600-143572800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:143569600-143573200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:143569600-143574000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:143569600-143574000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:143569600-143574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:143570000-143572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:143570000-143573000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:143570600-143573400	Weak transcription	Fetal Thymus	thymus
12	chr3:143571000-143574000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:143572400-143574600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:143572600-143574600	Enhancers	Primary T cells from cord blood	blood
15	chr3:143572800-143574600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:143572800-143574800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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