Variant report

Variant	rs2489313
Chromosome Location	chr1:225107308-225107309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10158926	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10495228	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs10495229	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs1080260	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10915779	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1110378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1110379	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12561993	0.83[CHB][hapmap]
rs12564683	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs12565019	0.84[ASN][1000 genomes]
rs12565439	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs12566396	0.80[ASN][1000 genomes]
rs12566857	0.83[CHB][hapmap]
rs12566886	0.80[ASN][1000 genomes]
rs12567091	0.82[CHB][hapmap]
rs12567461	0.84[ASN][1000 genomes]
rs12567470	0.84[ASN][1000 genomes]
rs12567499	0.83[CHB][hapmap]
rs1482279	0.83[CHB][hapmap]
rs1482280	0.83[CHB][hapmap]
rs1506069	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1506071	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1506072	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1506074	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1600865	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16843956	0.83[CHB][hapmap]
rs16843988	0.83[CHB][hapmap]
rs16857787	0.84[ASN][1000 genomes]
rs16858145	0.84[ASN][1000 genomes]
rs16858216	0.84[ASN][1000 genomes]
rs16858299	0.85[ASN][1000 genomes]
rs16858661	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs16858758	0.80[ASN][1000 genomes]
rs16858766	0.80[ASN][1000 genomes]
rs16858829	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs16858831	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs16858932	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs16858962	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs1832540	0.86[EUR][1000 genomes]
rs1905114	0.83[CHB][hapmap]
rs1905115	0.81[CHB][hapmap]
rs1936629	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1936631	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936635	0.99[ASN][1000 genomes]
rs1961688	0.82[CHB][hapmap]
rs1982707	0.83[CHB][hapmap]
rs2014656	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2014667	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2086368	0.83[CHB][hapmap]
rs2101143	0.84[ASN][1000 genomes]
rs2128268	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2128270	0.90[CHB][hapmap]
rs2254158	0.85[AMR][1000 genomes]
rs2291227	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs2406097	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406098	0.84[ASN][1000 genomes]
rs2449256	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2449258	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2449269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449273	0.82[CHB][hapmap]
rs2449274	0.83[CHB][hapmap]
rs2449281	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2449287	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2449304	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2449315	0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449316	0.80[ASN][1000 genomes]
rs2449320	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449322	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2456335	0.83[CHB][hapmap]
rs2456336	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2456339	0.83[CHB][hapmap]
rs2456349	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2489296	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2489298	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489300	0.80[ASN][1000 genomes]
rs2489301	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489303	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2489310	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2489311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489314	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2489322	0.83[CHB][hapmap]
rs2489324	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489327	0.96[EUR][1000 genomes]
rs2489337	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2489343	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489346	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489348	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489352	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2489353	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2489355	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2501061	0.80[ASN][1000 genomes]
rs2501064	0.80[ASN][1000 genomes]
rs2501066	0.80[ASN][1000 genomes]
rs2501072	0.80[ASN][1000 genomes]
rs2501078	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501081	0.84[ASN][1000 genomes]
rs2501082	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501099	0.82[AMR][1000 genomes]
rs2501100	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2501101	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2501110	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2501114	0.83[CHB][hapmap]
rs2501120	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2501129	0.83[CHB][hapmap]
rs2501133	0.82[EUR][1000 genomes]
rs2501135	0.82[CHB][hapmap]
rs2501140	0.80[ASN][1000 genomes]
rs2501141	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2501147	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501151	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501153	0.80[ASN][1000 genomes]
rs2501156	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2929626	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2939363	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3101904	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3101916	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3101917	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3102106	0.96[EUR][1000 genomes]
rs3102115	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3105564	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3105572	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3120989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3120991	0.86[EUR][1000 genomes]
rs3120993	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3128654	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3128655	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3128657	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3128659	0.81[CHB][hapmap]
rs3128664	0.86[EUR][1000 genomes]
rs3128666	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3128667	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4379650	0.80[ASN][1000 genomes]
rs55668169	0.80[ASN][1000 genomes]
rs55754430	0.84[ASN][1000 genomes]
rs56088704	0.80[ASN][1000 genomes]
rs56152573	0.80[ASN][1000 genomes]
rs56203783	0.82[ASN][1000 genomes]
rs57137890	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59420435	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61211002	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61466304	0.84[ASN][1000 genomes]
rs6426163	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6686694	0.85[EUR][1000 genomes]
rs6697156	0.83[CHB][hapmap]
rs6697382	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72629701	0.99[ASN][1000 genomes]
rs72629702	0.99[ASN][1000 genomes]
rs729398	0.84[ASN][1000 genomes]
rs7523949	0.83[CHB][hapmap]
rs7530659	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7531542	1.00[CHB][hapmap]
rs7548138	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs995613	0.85[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	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225102400-225110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225106800-225107600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:225106800-225107600	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:225107000-225107400	Enhancers	Dnd41	blood
5	chr1:225107000-225107600	Flanking Active TSS	Liver	Liver
6	chr1:225107000-225107800	Enhancers	HepG2	liver
7	chr1:225107200-225107400	Enhancers	Small Intestine	intestine
8	chr1:225107200-225107600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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