Variant report

Variant	rs17115589
Chromosome Location	chr1:57777038-57777039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17115509	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115566	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115568	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1847536	0.92[AFR][1000 genomes];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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773000-57778400	Weak transcription	Brain Angular Gyrus	brain
2	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57774400-57777400	Enhancers	HepG2	liver
4	chr1:57775600-57777800	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:57775600-57779800	Enhancers	Fetal Intestine Large	intestine
6	chr1:57775600-57779800	Enhancers	Fetal Intestine Small	intestine
7	chr1:57776400-57777600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:57777000-57777200	Enhancers	Liver	Liver

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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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