Variant report

Variant	rs17050109
Chromosome Location	chr2:59528153-59528154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12622464	0.93[AFR][1000 genomes]
rs13421114	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1344463	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17050107	0.81[EUR][1000 genomes]
rs17050111	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55904664	0.82[AMR][1000 genomes]
rs72806283	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72806285	0.81[EUR][1000 genomes]

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	nsv834170	chr2:59436676-59604794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv582099	chr2:59494725-59563744	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1003668	chr2:59523642-59592144	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59523600-59528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:59523800-59528600	Weak transcription	Fetal Lung	lung
3	chr2:59523800-59528800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:59524800-59535000	Weak transcription	Fetal Thymus	thymus
5	chr2:59525200-59528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:59526200-59528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:59526400-59528400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:59526400-59528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:59526400-59528600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:59526400-59528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:59526400-59528800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:59526400-59529600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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