Variant report

Variant	rs4241511
Chromosome Location	chr3:23272632-23272633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23266677..23268446-chr3:23270132..23272875,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1013460	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1027379	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11129113	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11129116	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11708117	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11708176	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11717397	0.85[ASN][1000 genomes]
rs11720461	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11920019	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12330262	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330479	0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12493361	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12496983	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12497974	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12629848	0.81[CEU][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13074192	0.83[ASN][1000 genomes]
rs13080261	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13080401	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13081371	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1353322	0.89[YRI][hapmap]
rs1495131	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532355	0.81[ASN][1000 genomes]
rs1552930	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012812	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012869	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1874235	0.81[YRI][hapmap]
rs1973400	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2055154	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172828	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359759	0.89[YRI][hapmap]
rs2884731	0.82[YRI][hapmap]
rs34919006	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4241512	0.83[ASN][1000 genomes]
rs4488778	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858062	0.80[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858064	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858074	0.82[YRI][hapmap]
rs4858483	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4858484	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4858491	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858492	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858496	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858497	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4858500	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4858501	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4858502	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858504	0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs4858509	0.81[ASN][1000 genomes]
rs59429714	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6550746	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6550748	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6550756	0.93[YRI][hapmap]
rs6769173	0.89[YRI][hapmap]
rs6784771	0.83[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6804123	1.00[CEU][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6805889	0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs7429470	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617072	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7622784	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631334	0.89[YRI][hapmap]
rs778460	0.86[YRI][hapmap]
rs778494	0.86[YRI][hapmap]
rs9310715	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs952134	0.82[YRI][hapmap]
rs9809176	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9816895	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9821101	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9822422	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9826877	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9836787	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9839738	0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs9841123	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841944	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9846398	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9847027	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9847958	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9848077	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9849176	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9853489	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9854148	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9854590	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9861803	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9864908	0.81[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9865602	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9874082	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9874822	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][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	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23246400-23273400	Weak transcription	Aorta	Aorta
2	chr3:23249000-23273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:23260800-23273400	Weak transcription	Right Atrium	heart
4	chr3:23261000-23273400	Weak transcription	Ovary	ovary
5	chr3:23261000-23274400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:23261400-23278200	Weak transcription	Brain Angular Gyrus	brain
7	chr3:23265400-23282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:23266200-23277800	Weak transcription	Fetal Thymus	thymus
9	chr3:23267600-23274400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:23269400-23273000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:23269400-23273200	Weak transcription	Brain Substantia Nigra	brain
12	chr3:23269400-23274200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:23270600-23273000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:23270600-23274400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:23270600-23278200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:23270600-23278400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:23271200-23276800	Weak transcription	Psoas Muscle	Psoas
18	chr3:23271200-23278200	Weak transcription	Right Ventricle	heart
19	chr3:23272400-23273000	Enhancers	HUVEC	blood vessel
20	chr3:23272600-23272800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:23272600-23283000	Weak transcription	HMEC	breast

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