Variant report

Variant	rs2416193
Chromosome Location	chr5:108020082-108020083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10039143	0.82[EUR][1000 genomes]
rs10045221	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs10053099	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10053210	0.82[EUR][1000 genomes]
rs10055749	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065015	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068485	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10072827	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477926	0.97[EUR][1000 genomes]
rs10477927	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10515391	0.82[EUR][1000 genomes]
rs12332706	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13359331	0.82[EUR][1000 genomes]
rs13436390	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858068	0.82[EUR][1000 genomes]
rs1876624	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60052254	0.82[ASN][1000 genomes]
rs6873702	1.00[CEU][hapmap];0.97[EUR][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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
2	chr5:108014200-108020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:108017400-108021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:108017400-108021000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:108017400-108021200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:108017400-108022000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:108017600-108020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:108017600-108021000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:108017600-108021200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:108017600-108021200	Weak transcription	HepG2	liver
11	chr5:108017600-108021600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:108017600-108023600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:108017600-108023600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:108017800-108020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:108018200-108023000	Weak transcription	GM12878-XiMat	blood

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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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