Variant report

Variant	rs12239929
Chromosome Location	chr1:185848219-185848220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185836059..185838961-chr1:185847676..185850629,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10047250	1.00[JPT][hapmap]
rs10449224	1.00[EUR][1000 genomes]
rs10465495	1.00[EUR][1000 genomes]
rs10465496	1.00[EUR][1000 genomes]
rs10465497	1.00[EUR][1000 genomes]
rs10465500	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10489714	1.00[JPT][hapmap]
rs10489715	1.00[JPT][hapmap]
rs10489716	1.00[JPT][hapmap]
rs10489717	1.00[JPT][hapmap]
rs10911781	1.00[JPT][hapmap]
rs10911785	1.00[JPT][hapmap]
rs10911789	1.00[JPT][hapmap]
rs11800990	1.00[JPT][hapmap]
rs11807146	1.00[JPT][hapmap]
rs12061058	1.00[EUR][1000 genomes]
rs12066427	1.00[EUR][1000 genomes]
rs12078444	1.00[JPT][hapmap]
rs12239587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1321670	1.00[JPT][hapmap]
rs1321671	1.00[JPT][hapmap]
rs1322354	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1322355	0.89[AFR][1000 genomes]
rs1322356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374445	1.00[JPT][hapmap]
rs1407426	1.00[JPT][hapmap]
rs1407428	1.00[JPT][hapmap]
rs1407429	1.00[JPT][hapmap]
rs1555494	1.00[JPT][hapmap]
rs16824465	1.00[JPT][hapmap]
rs16824488	1.00[JPT][hapmap]
rs16824576	1.00[JPT][hapmap]
rs16824645	0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824657	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824658	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824663	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824665	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824668	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824669	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824678	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824688	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824692	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs16824719	0.85[AFR][1000 genomes]
rs16824725	0.85[AFR][1000 genomes]
rs16824726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824728	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824729	0.85[AFR][1000 genomes]
rs16824732	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824741	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505819	1.00[JPT][hapmap]
rs1830622	1.00[JPT][hapmap]
rs1951512	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951513	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951516	0.87[AMR][1000 genomes]
rs2129125	1.00[JPT][hapmap]
rs55678382	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55943726	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55975103	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56182901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57103984	0.89[AFR][1000 genomes]
rs57289095	0.89[AFR][1000 genomes]
rs58063730	0.87[AMR][1000 genomes]
rs59787112	0.89[AFR][1000 genomes]
rs59818099	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6425004	1.00[JPT][hapmap]
rs6425005	1.00[JPT][hapmap]
rs6425008	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657554	1.00[JPT][hapmap]
rs6657683	1.00[JPT][hapmap]
rs6660510	1.00[JPT][hapmap]
rs6662653	1.00[JPT][hapmap]
rs6664313	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664384	0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs6666206	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs6666950	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs6667046	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs6667316	1.00[JPT][hapmap]
rs6675465	1.00[JPT][hapmap]
rs6676522	1.00[JPT][hapmap]
rs6676629	1.00[JPT][hapmap]
rs6679622	0.86[AFR][1000 genomes]
rs6679893	0.89[AFR][1000 genomes]
rs6683809	1.00[JPT][hapmap]
rs6688298	1.00[JPT][hapmap]
rs6689494	0.86[AFR][1000 genomes]
rs6689783	0.89[AFR][1000 genomes]
rs6690475	1.00[JPT][hapmap]
rs6690559	1.00[JPT][hapmap]
rs6690714	1.00[JPT][hapmap]
rs6690968	0.89[AFR][1000 genomes]
rs6696804	1.00[JPT][hapmap]
rs6698721	1.00[JPT][hapmap]
rs6701167	0.89[AFR][1000 genomes]
rs6703739	0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs726777	1.00[JPT][hapmap]
rs73054454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056300	0.89[AFR][1000 genomes]
rs73058203	0.89[AFR][1000 genomes]
rs73058206	0.89[AFR][1000 genomes]
rs73058209	0.89[AFR][1000 genomes]
rs73058214	0.89[AFR][1000 genomes]
rs73058224	0.89[AFR][1000 genomes]
rs73058243	0.88[AFR][1000 genomes]
rs73058250	0.84[AFR][1000 genomes]
rs73062122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062125	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73062132	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062134	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062140	0.82[AFR][1000 genomes]
rs73062143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062155	1.00[EUR][1000 genomes]
rs73062157	1.00[EUR][1000 genomes]
rs73062164	1.00[EUR][1000 genomes]
rs7518783	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs7521401	1.00[JPT][hapmap]
rs7540773	1.00[JPT][hapmap]
rs7541361	1.00[JPT][hapmap]
rs7544533	1.00[JPT][hapmap]
rs7544887	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs7546152	1.00[JPT][hapmap]
rs9628626	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185838800-185849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:185847800-185850400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185848200-185848400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:185848200-185849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:185848200-185850600	Enhancers	Aorta	Aorta

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