Variant report

Variant	rs11929281
Chromosome Location	chr3:46124330-46124331
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	chr3:46123578..46126069-chr3:46127195..46129826,3	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1072755	0.83[CEU][hapmap]
rs11130080	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11130085	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130086	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1118879	0.89[ASN][1000 genomes]
rs11917890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485978	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12495073	0.84[CEU][hapmap];0.84[ASN][1000 genomes]
rs12496322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629632	0.89[ASN][1000 genomes]
rs12630101	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs12635657	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12637023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639598	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs13059919	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13060901	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs13065737	0.89[ASN][1000 genomes]
rs13066048	0.84[CEU][hapmap]
rs13073861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077099	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077923	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13078053	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082280	0.87[ASN][1000 genomes]
rs13098271	0.81[ASN][1000 genomes]
rs13434029	0.87[ASN][1000 genomes]
rs13434336	0.93[ASN][1000 genomes]
rs1392290	0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1491959	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1500005	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546077	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1546078	0.90[ASN][1000 genomes]
rs1546079	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1552489	0.83[CEU][hapmap]
rs1602579	0.89[ASN][1000 genomes]
rs1604069	0.92[ASN][1000 genomes]
rs17078577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1909595	0.89[ASN][1000 genomes]
rs1909596	0.92[ASN][1000 genomes]
rs1976366	0.90[ASN][1000 genomes]
rs1976367	0.90[ASN][1000 genomes]
rs1994490	0.89[JPT][hapmap]
rs2036292	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2054866	0.83[CEU][hapmap]
rs2131091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2201984	0.81[ASN][1000 genomes]
rs2220678	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2248228	0.92[CEU][hapmap]
rs2373150	0.87[ASN][1000 genomes]
rs2373151	0.87[ASN][1000 genomes]
rs2373153	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2373154	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs28808964	0.80[ASN][1000 genomes]
rs34067839	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34381514	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34906043	0.81[ASN][1000 genomes]
rs35359253	0.89[ASN][1000 genomes]
rs35435608	0.81[ASN][1000 genomes]
rs35462017	0.89[ASN][1000 genomes]
rs35567508	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35657218	0.81[ASN][1000 genomes]
rs36111470	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733100	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3774634	0.84[CEU][hapmap]
rs3774639	0.83[CEU][hapmap]
rs3796375	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs3821884	0.89[JPT][hapmap]
rs3851347	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4234452	0.80[ASN][1000 genomes]
rs4318588	0.87[ASN][1000 genomes]
rs4333119	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4535265	0.83[CEU][hapmap]
rs4682806	0.93[ASN][1000 genomes]
rs4682809	0.90[ASN][1000 genomes]
rs4682810	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4683157	0.84[CEU][hapmap]
rs4683168	0.81[ASN][1000 genomes]
rs4683175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683176	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4683178	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307311	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59521415	0.89[ASN][1000 genomes]
rs60539039	0.82[ASN][1000 genomes]
rs61079448	0.89[ASN][1000 genomes]
rs6441944	0.89[ASN][1000 genomes]
rs6764042	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6772051	0.86[ASN][1000 genomes]
rs6776028	0.85[ASN][1000 genomes]
rs6780163	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs6784214	0.90[ASN][1000 genomes]
rs6794103	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794475	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795629	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6800484	0.93[ASN][1000 genomes]
rs6805094	0.83[ASN][1000 genomes]
rs6808074	0.86[ASN][1000 genomes]
rs6809381	0.95[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs730983	0.88[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs737452	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs751552	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs751553	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs7610518	0.89[ASN][1000 genomes]
rs7616464	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623460	0.84[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs7631598	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7642701	0.81[ASN][1000 genomes]
rs9311386	0.92[ASN][1000 genomes]
rs9311387	0.92[ASN][1000 genomes]
rs936938	0.84[CEU][hapmap]
rs9637425	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9824886	0.90[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs9831315	0.81[CEU][hapmap]
rs9849015	0.81[ASN][1000 genomes]
rs9870445	0.92[ASN][1000 genomes]
rs9876587	0.92[ASN][1000 genomes]
rs9990063	0.93[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
2	chr3:46120800-46127000	Weak transcription	HSMMtube	muscle
3	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:46121400-46126800	Weak transcription	Fetal Thymus	thymus
5	chr3:46121600-46125800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:46121800-46126000	Enhancers	NHEK	skin
7	chr3:46122400-46125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:46122600-46125200	Enhancers	Placenta	Placenta
9	chr3:46122600-46127000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:46122800-46126600	Weak transcription	Ovary	ovary
11	chr3:46123000-46124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:46123000-46127600	Weak transcription	Hela-S3	cervix
13	chr3:46123200-46125800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:46123200-46125800	Enhancers	HMEC	breast
15	chr3:46123200-46126200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:46123200-46127000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:46123200-46129600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:46123400-46125400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:46123400-46125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:46123400-46130400	Weak transcription	Adipose Nuclei	Adipose
21	chr3:46123600-46125800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:46123800-46125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:46124000-46124400	Weak transcription	Fetal Lung	lung

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