Variant report

Variant	rs548123429
Chromosome Location	chr2:55717535-55717536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000143947	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000272606	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55715000-55717800	Weak transcription	K562	blood
2	chr2:55717000-55717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:55717000-55717800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:55717000-55718000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:55717000-55718200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:55717000-55718400	Enhancers	Brain Substantia Nigra	brain
7	chr2:55717000-55718800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:55717200-55718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:55717200-55718200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:55717400-55717800	Weak transcription	NHEK	skin
11	chr2:55717400-55718000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:55717400-55718000	Enhancers	Fetal Muscle Leg	muscle
13	chr2:55717400-55718000	Enhancers	NHLF	lung
14	chr2:55717400-55718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:55717400-55718400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:55717400-55718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

Quick Search:

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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