Variant report

Variant	rs544639991
Chromosome Location	chr2:173064625-173064626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173062000-173065200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:173062200-173064800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173064200-173064800	Weak transcription	NHEK	skin
4	chr2:173064400-173064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:173064400-173064800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr2:173064400-173065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:173064600-173064800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:173064600-173065000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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

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