Variant report

Variant	rs13419135
Chromosome Location	chr2:172125651-172125652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1477180	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1811271	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1987418	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs888273	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9653289	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172118800-172127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:172119000-172128200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:172119600-172127600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:172125000-172127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:172125000-172127600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:172125000-172127800	Weak transcription	NHDF-Ad	bronchial
8	chr2:172125200-172126800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:172125200-172127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:172125200-172127800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:172125400-172128600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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