Variant report

Variant	rs13069750
Chromosome Location	chr3:46224850-46224851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46224495..46227137-chr3:46235369..46237758,2	K562	blood:
2	chr3:46224582..46227579-chr3:46229207..46231436,3	MCF-7	breast:

Extended variants
information (count: 157 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10510748	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510749	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10510750	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes]
rs11919943	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs11926063	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs11929489	0.89[EUR][1000 genomes]
rs13059906	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13060713	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13060802	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13061548	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13062450	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13062523	0.89[EUR][1000 genomes]
rs13067058	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes]
rs13068572	0.85[ASN][1000 genomes]
rs13069467	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13069845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13070099	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13073976	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MKK][hapmap]
rs13075270	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];0.91[EUR][1000 genomes]
rs13075836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082995	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13083881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13083914	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13084057	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13084175	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13086063	0.83[ASN][1000 genomes]
rs13088766	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs13089544	0.86[ASN][1000 genomes]
rs13089907	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13090848	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13092160	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13095940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13095946	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13096307	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13096325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13096371	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13096808	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs13096873	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13096905	1.00[AFR][1000 genomes]
rs13097340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13097666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13100243	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs1542755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs17078704	0.87[ASN][1000 genomes]
rs17216717	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17217831	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs17282797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17282922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17283712	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17330872	1.00[ASW][hapmap]
rs2131092	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2373156	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2856762	0.87[CEU][hapmap];1.00[MKK][hapmap]
rs3091310	1.00[CEU][hapmap]
rs3091314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3136667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs3136672	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3136673	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3176824	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3176825	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3176826	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181076	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181080	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs33998492	1.00[AFR][1000 genomes]
rs34005848	0.86[AMR][1000 genomes]
rs34013035	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34059564	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101673	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34134191	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34194160	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34198655	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34280313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34289272	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34340501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34376347	0.87[EUR][1000 genomes]
rs34378541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34401473	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406035	1.00[AFR][1000 genomes]
rs34409248	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34414382	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34423195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34498313	0.89[EUR][1000 genomes]
rs34523728	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34531115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34558763	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34567015	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34570200	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611049	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34625088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34677490	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34692251	1.00[AFR][1000 genomes]
rs34693386	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745455	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34759782	0.89[EUR][1000 genomes]
rs34865316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34870159	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34897745	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34919616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34920132	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34985947	0.89[EUR][1000 genomes]
rs34996127	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111399	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35178150	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35195804	0.89[EUR][1000 genomes]
rs35288652	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35335084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35354367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35429781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35434266	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35560301	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566550	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35587265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35613615	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35614049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35617677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35685805	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35754688	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35775079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35853141	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35919278	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35942803	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35960950	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35984988	0.89[EUR][1000 genomes]
rs36010446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36048333	1.00[AFR][1000 genomes]
rs36189995	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774630	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3851346	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs41432345	0.93[EUR][1000 genomes]
rs41537946	0.89[EUR][1000 genomes]
rs4443214	0.93[ASN][1000 genomes]
rs4493469	1.00[ASN][1000 genomes]
rs4987053	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs57115330	0.88[EUR][1000 genomes]
rs6765904	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775046	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs71327035	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327036	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71327040	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs71327041	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs71327042	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs71615441	0.86[AMR][1000 genomes]
rs7620586	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7624155	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs7628489	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7631551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651539	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs9832730	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs9838191	1.00[CEU][hapmap];0.85[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13069750	CCR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46223600-46231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46224200-46225800	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:46224400-46225000	Enhancers	Placenta	Placenta
4	chr3:46224400-46225200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:46224400-46225200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:46224400-46225200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:46224400-46225200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:46224400-46225600	Enhancers	Primary B cells from cord blood	blood
11	chr3:46224400-46225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:46224600-46225000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:46224600-46225200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:46224600-46225200	Enhancers	Fetal Thymus	thymus
15	chr3:46224600-46225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:46224600-46225600	Weak transcription	HSMMtube	muscle
17	chr3:46224800-46225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:46224800-46225800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46224800-46226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:46224800-46226600	Enhancers	NHEK	skin

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