Variant report

Variant	rs544203475
Chromosome Location	chr20:52392754-52392755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000179071	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
2	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
3	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
4	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
5	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
6	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
7	esv3347191	chr20:52391640-52394708	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv586221	chr20:52392390-52418987	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
2	chr20:52384400-52394800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:52390200-52403400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:52390400-52395000	Enhancers	HepG2	liver
5	chr20:52390600-52394200	Weak transcription	Liver	Liver
6	chr20:52391200-52394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:52391400-52394600	Weak transcription	Placenta	Placenta
8	chr20:52391400-52394600	Weak transcription	Stomach Mucosa	stomach
9	chr20:52391600-52394600	Weak transcription	Small Intestine	intestine
10	chr20:52391800-52393200	Enhancers	A549	lung
11	chr20:52391800-52394400	Weak transcription	Pancreas	Pancrea
12	chr20:52391800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:52392000-52394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52392000-52394400	Weak transcription	NHEK	skin
15	chr20:52392000-52394800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:52392000-52394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:52392000-52394800	Weak transcription	HMEC	breast
18	chr20:52392400-52393400	Weak transcription	HSMM	muscle
19	chr20:52392600-52392800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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