Variant report

Variant	rs17109997
Chromosome Location	chr1:93941449-93941450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1079750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11164926	0.80[EUR][1000 genomes]
rs11164930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11811006	0.80[EUR][1000 genomes]
rs12060221	0.84[EUR][1000 genomes]
rs12062584	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12069440	0.85[ASN][1000 genomes]
rs12086857	0.85[LWK][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12096561	0.84[EUR][1000 genomes]
rs12409932	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12410122	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs12410123	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1582773	0.80[EUR][1000 genomes]
rs17109951	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17131741	1.00[CEU][hapmap]
rs17387059	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1895903	0.80[EUR][1000 genomes]
rs2011212	0.83[EUR][1000 genomes]
rs2081568	0.84[EUR][1000 genomes]
rs2624437	1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs3088371	0.85[CEU][hapmap]
rs57710451	0.83[EUR][1000 genomes]
rs59792151	0.83[EUR][1000 genomes]
rs60822733	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61580948	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6688111	0.86[EUR][1000 genomes]
rs67012296	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72721009	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721010	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721014	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721019	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72961351	0.82[EUR][1000 genomes]
rs7339890	0.83[EUR][1000 genomes]
rs7539210	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7541984	0.81[EUR][1000 genomes]
rs7553695	0.95[EUR][1000 genomes]
rs900310	0.83[EUR][1000 genomes]

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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:93922600-93944000	Weak transcription	Gastric	stomach
3	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
4	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:93933400-93943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:93937600-93943800	Weak transcription	HepG2	liver
10	chr1:93937600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:93938000-93942400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:93939200-93943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:93939600-93942200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:93939600-93943400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:93939600-93946000	Weak transcription	Left Ventricle	heart
16	chr1:93940000-93942000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:93940000-93942400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:93940200-93942400	Weak transcription	Fetal Lung	lung
19	chr1:93940400-93943800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:93941000-93941800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:93941200-93947400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:93941400-93942000	Enhancers	Liver	Liver

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