Variant report

Variant	esv3423057
Chromosome Location	chr10:22602913-22603396
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	IRF1	chr10:22603014-22603055	K562	blood:	n/a	n/a
2	STAT3	chr10:22603253-22603428	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22273187..22276157-chr10:22602647..22604578,2	K562	blood:
2	chr10:22289238..22294973-chr10:22602474..22605963,8	MCF-7	breast:
3	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:

Variant related genes	Relation type
COMMD3-BMI1	TF binding region
COMMD3	TF binding region
ENSG00000136770	chromatin interactions
ENSG00000261671	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578131523	chr10:22603011-22603012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532284584	chr10:22603048-22603049	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs552479540	chr10:22603119-22603120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562536143	chr10:22603199-22603200	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191970016	chr10:22603247-22603248	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547987076	chr10:22603256-22603257	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs7069551	chr10:22603318-22603319	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534046463	chr10:22603332-22603333	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs184715031	chr10:22603376-22603377	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs570856448	chr10:22603384-22603385	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22601400-22604400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr10:22601800-22605000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:22602000-22603200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:22602800-22603000	Active TSS	K562	blood
5	chr10:22603000-22604400	Flanking Active TSS	K562	blood
6	chr10:22603200-22603400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links