Variant report

Variant	rs2217732
Chromosome Location	chr8:42618446-42618447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10087172	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092346	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10107450	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10108797	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10109040	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10109864	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10110332	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1072003	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808962	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11986893	0.84[JPT][hapmap];0.81[AMR][1000 genomes]
rs11995030	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13280604	0.84[JPT][hapmap]
rs1451240	0.84[JPT][hapmap]
rs1530847	0.84[JPT][hapmap]
rs16891561	0.87[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1955185	0.84[JPT][hapmap]
rs1979140	0.84[JPT][hapmap]
rs2082591	0.82[AMR][1000 genomes]
rs2117225	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2196128	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304297	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28501554	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28784665	0.82[AMR][1000 genomes]
rs28826992	0.82[AMR][1000 genomes]
rs4236926	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs4509313	0.83[AMR][1000 genomes]
rs4567031	0.83[AMR][1000 genomes]
rs4736835	0.84[JPT][hapmap]
rs4737068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737071	0.81[AMR][1000 genomes]
rs4950	0.84[JPT][hapmap]
rs55828312	0.83[ASN][1000 genomes]
rs56395510	0.82[AMR][1000 genomes]
rs57645595	0.82[ASN][1000 genomes]
rs6474412	0.84[JPT][hapmap]
rs6474413	0.84[JPT][hapmap]
rs6474418	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6474420	0.83[AMR][1000 genomes]
rs6982753	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984252	0.83[AMR][1000 genomes]
rs6999449	0.88[AMR][1000 genomes]
rs7000412	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001753	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002223	0.98[ASN][1000 genomes]
rs7004108	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004381	0.84[JPT][hapmap]
rs7015935	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017612	0.97[ASN][1000 genomes]
rs7459838	0.83[ASN][1000 genomes]
rs7812298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824155	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824614	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7825261	0.88[AMR][1000 genomes]
rs7825907	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7828366	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831096	0.82[AMR][1000 genomes]
rs7837296	0.83[JPT][hapmap]
rs7839964	0.95[ASN][1000 genomes]
rs7841834	0.81[AMR][1000 genomes]
rs7845663	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs892413	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298628	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298629	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
2	chr8:42613800-42618600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:42615200-42619000	Enhancers	Liver	Liver
4	chr8:42615800-42618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:42615800-42619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:42615800-42620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:42616200-42623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:42617000-42620000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:42617000-42620000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:42617200-42620200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:42617200-42622400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:42617400-42619000	Weak transcription	Pancreas	Pancrea
13	chr8:42617600-42619400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:42618000-42619000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:42618000-42619800	Enhancers	HepG2	liver
16	chr8:42618200-42618800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:42618200-42618800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:42618200-42620600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:42618200-42620800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:42618400-42619400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:42618400-42619400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:42618400-42620600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:42618400-42620800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:42618400-42621000	Enhancers	GM12878-XiMat	blood

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