Variant report

Variant	rs920033
Chromosome Location	chr2:50168374-50168375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1013597	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495988	0.88[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125278	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11885824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11902804	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12476729	0.88[EUR][1000 genomes]
rs12617277	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618646	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12995774	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12998798	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13000689	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13007882	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13016321	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13016900	0.84[ASN][1000 genomes]
rs13022108	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023203	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13023905	0.84[AMR][1000 genomes]
rs13025974	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13028383	0.82[EUR][1000 genomes]
rs1345562	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17039412	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17039430	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17039448	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17039452	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17039454	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17039456	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17039472	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17039484	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17039508	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039581	0.88[AMR][1000 genomes]
rs17039592	0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs17439140	0.85[JPT][hapmap]
rs17491776	0.91[JPT][hapmap]
rs2193868	0.86[JPT][hapmap]
rs2241750	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241752	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2350803	0.84[ASN][1000 genomes]
rs34533417	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34918442	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35371642	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35373906	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3922898	0.81[EUR][1000 genomes]
rs3935314	0.82[EUR][1000 genomes]
rs4143112	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57936567	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60884569	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62132409	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62132414	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62132439	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62132441	0.91[AMR][1000 genomes]
rs62132445	0.88[AMR][1000 genomes]
rs6745765	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6753652	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6758043	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758276	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598993	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs920034	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs920035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:50163200-50171200	Weak transcription	Fetal Heart	heart
4	chr2:50163200-50175800	Weak transcription	Fetal Brain Female	brain
5	chr2:50164800-50172400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:50166000-50169200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:50167600-50168400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:50167600-50168400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:50167600-50168400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:50167600-50168400	Active TSS	HMEC	breast
11	chr2:50167600-50168400	Active TSS	NHEK	skin
12	chr2:50167600-50168600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:50167600-50168800	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:50167600-50168800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:50167800-50168400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:50167800-50168400	Active TSS	Primary T cells fromperipheralblood	blood
17	chr2:50167800-50168400	Active TSS	Primary hematopoietic stem cells	blood
18	chr2:50167800-50168400	Active TSS	Adipose Nuclei	Adipose
19	chr2:50167800-50168400	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:50167800-50168400	Active TSS	Thymus	Thymus
21	chr2:50167800-50168400	Active TSS	A549	lung
22	chr2:50167800-50168400	Flanking Active TSS	Dnd41	blood
23	chr2:50167800-50168400	Active TSS	GM12878-XiMat	blood
24	chr2:50167800-50168400	Active TSS	Hela-S3	cervix
25	chr2:50167800-50168400	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:50168000-50168400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:50168000-50168400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:50168000-50168400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:50168000-50168600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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