Variant report

Variant	rs357710
Chromosome Location	chr2:180666610-180666611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs165385	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs259813	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs259851	1.00[AMR][1000 genomes]
rs357715	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[YRI][hapmap]
rs450752	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180655600-180669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180665600-180667000	Enhancers	Fetal Brain Male	brain
3	chr2:180666000-180667200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:180666000-180667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:180666200-180667200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:180666400-180667000	Enhancers	Fetal Brain Female	brain

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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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