Variant report

Variant	rs13030932
Chromosome Location	chr2:100334580-100334581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10175788	0.86[ASN][1000 genomes]
rs10182690	0.87[ASN][1000 genomes]
rs10191816	0.95[ASN][1000 genomes]
rs10199818	0.93[ASN][1000 genomes]
rs11123793	0.96[ASN][1000 genomes]
rs11123794	0.95[ASN][1000 genomes]
rs11123795	0.95[ASN][1000 genomes]
rs11682978	0.95[ASN][1000 genomes]
rs11690403	0.95[ASN][1000 genomes]
rs11888741	0.93[ASN][1000 genomes]
rs12712059	0.95[ASN][1000 genomes]
rs13010551	0.93[ASN][1000 genomes]
rs13407928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428668	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1404175	0.95[ASN][1000 genomes]
rs1404176	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404177	0.95[ASN][1000 genomes]
rs1464757	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030690	0.81[ASN][1000 genomes]
rs2049400	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs2091150	0.81[ASN][1000 genomes]
rs2115601	0.87[ASN][1000 genomes]
rs2163044	0.87[ASN][1000 genomes]
rs2309690	0.93[ASN][1000 genomes]
rs2309729	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2871316	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34116173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34369751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863005	0.95[ASN][1000 genomes]
rs3863006	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3915083	0.95[ASN][1000 genomes]
rs4332968	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4850914	0.91[ASN][1000 genomes]
rs4851225	0.93[ASN][1000 genomes]
rs4851226	0.93[ASN][1000 genomes]
rs4851228	0.95[ASN][1000 genomes]
rs4851229	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851230	0.95[ASN][1000 genomes]
rs4851232	0.86[ASN][1000 genomes]
rs4851234	0.86[ASN][1000 genomes]
rs62150081	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6542890	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542891	0.83[ASN][1000 genomes]
rs6705966	0.87[ASN][1000 genomes]
rs6721652	0.86[ASN][1000 genomes]
rs6732358	0.87[ASN][1000 genomes]
rs6739478	0.95[ASN][1000 genomes]
rs6739601	0.93[ASN][1000 genomes]
rs6741990	0.95[ASN][1000 genomes]
rs6744510	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6746146	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748557	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6756009	0.95[ASN][1000 genomes]
rs6756821	0.86[ASN][1000 genomes]
rs6757262	0.95[ASN][1000 genomes]
rs6758027	0.95[ASN][1000 genomes]
rs7559975	0.95[ASN][1000 genomes]
rs7561009	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7565155	0.87[ASN][1000 genomes]
rs7573572	0.87[ASN][1000 genomes]
rs7582469	0.95[ASN][1000 genomes]
rs7584365	0.93[ASN][1000 genomes]
rs7589376	0.83[ASN][1000 genomes]
rs7602699	0.85[ASN][1000 genomes]
rs7604536	0.87[ASN][1000 genomes]
rs868665	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9308829	0.87[ASN][1000 genomes]
rs940458	0.83[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
4	chr2:100322000-100340000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100327400-100334600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100327800-100344400	Weak transcription	Ovary	ovary
7	chr2:100328000-100336600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100328000-100338200	Weak transcription	Fetal Lung	lung
9	chr2:100329000-100339200	Weak transcription	Fetal Brain Male	brain
10	chr2:100330600-100334600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:100331600-100338800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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