Variant report

Variant	rs576521522
Chromosome Location	chr19:52644567-52644568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
2	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
3	chr19:52641278..52644856-chr19:52672246..52674908,4	MCF-7	breast:
4	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:

Variant related genes	Relation type
ENSG00000196267	Chromatin interaction
ENSG00000267827	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000197608	Chromatin interaction
ENSG00000238630	Chromatin interaction
ENSG00000267927	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv960860	chr19:52643619-52646538	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52643200-52644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:52643400-52645200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:52643600-52645000	Enhancers	Placenta	Placenta
5	chr19:52643800-52645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:52643800-52646200	Weak transcription	Thymus	Thymus
7	chr19:52644000-52644600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:52644000-52644600	Enhancers	HepG2	liver
9	chr19:52644000-52644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:52644000-52645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:52644000-52647200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:52644000-52650200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
14	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
16	chr19:52644200-52656800	Weak transcription	Brain Germinal Matrix	brain
17	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
18	chr19:52644400-52644600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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