Variant report

Variant	rs548481090
Chromosome Location	chr2:172973724-172973725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172970741..172972520-chr2:172972627..172974795,2	K562	blood:
2	chr2:172966348..172968822-chr2:172971677..172974375,3	MCF-7	breast:
3	chr2:172751399..172753053-chr2:172972072..172974852,2	MCF-7	breast:
4	chr2:172972600..172974190-chr2:172975792..172977649,2	K562	blood:

Variant related genes	Relation type
ENSG00000236651	Chromatin interaction
ENSG00000115844	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518335	chr2:172972971-172974749	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3436324	chr2:172973656-172974704	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172968000-172974800	Weak transcription	Gastric	stomach
2	chr2:172971600-172975200	Bivalent Enhancer	Fetal Thymus	thymus
3	chr2:172971800-172974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:172971800-172974200	Weak transcription	NHEK	skin
5	chr2:172971800-172974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:172971800-172974600	Weak transcription	HMEC	breast
7	chr2:172972200-172973800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr2:172972600-172973800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172972600-172974200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:172972600-172974400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:172972600-172974800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172973000-172978200	Weak transcription	NHDF-Ad	bronchial
13	chr2:172973200-172973800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr2:172973200-172974000	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr2:172973200-172974400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr2:172973200-172974600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:172973400-172973800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr2:172973400-172974000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:172973400-172974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:172973600-172973800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172973600-172974400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:172973600-172974800	Bivalent Enhancer	HepG2	liver

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