Variant report

Variant	rs17284660
Chromosome Location	chr2:172143764-172143765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019363	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10445762	1.00[ASW][hapmap];0.82[MEX][hapmap]
rs17285541	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2080602	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111718	1.00[ASW][hapmap]
rs2160849	1.00[ASW][hapmap];0.82[MEX][hapmap]
rs2356706	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668382	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58816662	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181336	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62181337	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181338	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181339	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181340	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181342	0.86[EUR][1000 genomes]
rs6433287	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72625232	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7562674	1.00[CEU][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172141200-172145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:172141800-172145400	Weak transcription	Esophagus	oesophagus
3	chr2:172143400-172144400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:172143400-172144400	Enhancers	HMEC	breast
5	chr2:172143400-172144600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172143400-172144600	Enhancers	NHEK	skin
7	chr2:172143400-172146600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:172143600-172144000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:172143600-172144000	Bivalent Enhancer	HepG2	liver
10	chr2:172143600-172144200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172143600-172144200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:172143600-172144400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:172143600-172144400	Enhancers	A549	lung
14	chr2:172143600-172144800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:172143600-172144800	Enhancers	Brain Germinal Matrix	brain
16	chr2:172143600-172145000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172143600-172145200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172143600-172145600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:172143600-172147200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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