Variant report

Variant	rs753289
Chromosome Location	chr2:183146040-183146041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10201929	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10930994	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13034133	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1344773	0.96[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1347079	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1432517	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1432518	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1432519	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1432520	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1432521	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1432533	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1594614	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17366198	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs17366503	0.87[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs17457164	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs17457303	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17457323	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17595927	0.96[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs1835880	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835881	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1864847	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864848	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864849	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864850	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864851	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864852	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1864854	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1988750	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2116636	0.86[ASN][1000 genomes]
rs2128045	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2128046	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2128047	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2170402	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2170403	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217614	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276612	0.96[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs2368255	0.96[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs2368276	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2568660	0.95[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568661	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568663	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568664	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2568667	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2568670	0.86[ASN][1000 genomes]
rs2568672	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2568673	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568674	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2568676	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2568682	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2623418	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2623422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2623423	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2623435	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2623437	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754929	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4503956	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666819	0.96[CEU][hapmap];0.87[JPT][hapmap]
rs55747252	0.81[EUR][1000 genomes]
rs56282499	0.81[EUR][1000 genomes]
rs56301405	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57801137	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6740401	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741105	0.80[ASN][1000 genomes]
rs68189385	0.82[EUR][1000 genomes]
rs711808	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72895040	0.82[EUR][1000 genomes]
rs7571503	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7581170	0.81[EUR][1000 genomes]
rs833133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833140	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833156	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964757	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs964758	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:183138200-183148000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:183139000-183147200	Weak transcription	Aorta	Aorta
3	chr2:183142200-183155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183144800-183146400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:183145400-183147800	Weak transcription	HUVEC	blood vessel
6	chr2:183145600-183148000	Weak transcription	HSMM	muscle
7	chr2:183145800-183146200	Enhancers	Brain Angular Gyrus	brain
8	chr2:183145800-183146400	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:183145800-183147000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:183146000-183147000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:183146000-183148000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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