Variant report

Variant	rs17112594
Chromosome Location	chr1:56119658-56119659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17101352	1.00[YRI][hapmap]
rs17112489	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17112508	1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17112511	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17112514	1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17112535	1.00[EUR][1000 genomes]
rs17112562	1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17112607	1.00[YRI][hapmap]
rs74074506	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56116400-56120400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:56117800-56122800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:56118600-56123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:56118800-56123800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:56119200-56123600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:56119400-56120000	Enhancers	Ovary	ovary
7	chr1:56119600-56120000	Enhancers	Psoas Muscle	Psoas

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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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