Variant report

Variant	rs2086886
Chromosome Location	chr8:20232578-20232579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1016646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10464996	1.00[AFR][1000 genomes]
rs10503679	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056831	1.00[AFR][1000 genomes]
rs12678670	0.86[EUR][1000 genomes]
rs12680152	0.85[EUR][1000 genomes]
rs17092258	0.93[AMR][1000 genomes]
rs17092305	0.86[EUR][1000 genomes]
rs17092434	1.00[AFR][1000 genomes]
rs17092733	1.00[AFR][1000 genomes]
rs17412582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17412623	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17412734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17412740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17412929	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17419795	1.00[AFR][1000 genomes]
rs17490805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17490847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17490895	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17491153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2005365	1.00[AFR][1000 genomes]
rs35673104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4601325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4610764	1.00[AFR][1000 genomes]
rs4921708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4921711	0.86[EUR][1000 genomes]
rs4921713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4922159	0.93[AMR][1000 genomes]
rs4922161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4922175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922181	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4922182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4922187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4922200	1.00[AFR][1000 genomes]
rs4922210	1.00[AFR][1000 genomes]
rs55700547	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55724720	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55968150	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56098307	0.93[AMR][1000 genomes]
rs56137757	0.93[AMR][1000 genomes]
rs56157706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56171374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989281	1.00[AFR][1000 genomes]
rs6999584	1.00[AFR][1000 genomes]
rs6999736	1.00[AFR][1000 genomes]
rs7011182	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7465534	1.00[AFR][1000 genomes]
rs7830125	1.00[AFR][1000 genomes]
rs950511	1.00[AFR][1000 genomes]
rs985577	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs985578	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:20227000-20232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:20227200-20233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:20227200-20233400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
5	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:20231400-20232600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:20231400-20234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:20231600-20232800	Weak transcription	Fetal Brain Male	brain
9	chr8:20231600-20233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:20231800-20233600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:20232000-20233200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:20232000-20234800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:20232000-20235600	Weak transcription	HMEC	breast
14	chr8:20232200-20232600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:20232200-20233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:20232200-20233800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:20232400-20232600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:20232400-20233400	Weak transcription	HSMM	muscle
19	chr8:20232400-20234000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:20232400-20236000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:20232400-20236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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