Variant report

Variant	rs41364446
Chromosome Location	chr3:46225147-46225148
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: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13059906	0.89[AFR][1000 genomes]
rs13061548	0.80[AFR][1000 genomes]
rs13089907	0.95[AFR][1000 genomes]
rs13090848	0.95[AFR][1000 genomes]
rs17078681	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17078691	0.83[AFR][1000 genomes]
rs17078693	0.83[AFR][1000 genomes]
rs2201148	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136664	1.00[EUR][1000 genomes]
rs3136665	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013035	0.95[AFR][1000 genomes]
rs34059564	0.87[AFR][1000 genomes]
rs34198655	0.95[AFR][1000 genomes]
rs34920132	0.81[AFR][1000 genomes]
rs35960950	0.91[AFR][1000 genomes]
rs41326147	1.00[EUR][1000 genomes]
rs41360244	0.83[AFR][1000 genomes]
rs41366344	1.00[EUR][1000 genomes]
rs41390044	0.82[AFR][1000 genomes]
rs41416345	0.82[AFR][1000 genomes]
rs41424051	1.00[EUR][1000 genomes]
rs41446946	0.82[AFR][1000 genomes]
rs41465848	1.00[EUR][1000 genomes]
rs41480548	1.00[EUR][1000 genomes]
rs4547740	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102061	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56129454	1.00[EUR][1000 genomes]
rs56947484	1.00[EUR][1000 genomes]
rs57522944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58095302	0.83[AFR][1000 genomes]
rs58772082	1.00[EUR][1000 genomes]
rs59047782	1.00[EUR][1000 genomes]
rs59654809	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61145486	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61752589	1.00[EUR][1000 genomes]
rs6772596	1.00[EUR][1000 genomes]
rs6780714	1.00[EUR][1000 genomes]
rs6791732	0.84[AFR][1000 genomes]
rs6792180	0.84[AFR][1000 genomes]
rs6793690	1.00[EUR][1000 genomes]
rs6796282	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830670	1.00[EUR][1000 genomes]
rs73830775	0.84[AFR][1000 genomes]
rs73830779	0.84[AFR][1000 genomes]
rs73830783	0.83[AFR][1000 genomes]
rs73830795	0.83[AFR][1000 genomes]
rs73833043	1.00[EUR][1000 genomes]
rs73833044	1.00[EUR][1000 genomes]
rs73833047	1.00[EUR][1000 genomes]
rs73833051	1.00[EUR][1000 genomes]
rs73833052	1.00[EUR][1000 genomes]
rs73833053	1.00[EUR][1000 genomes]
rs753110	1.00[EUR][1000 genomes]
rs7631551	0.83[AFR][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:25 , 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	chr3:46224400-46225200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:46224400-46225200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:46224400-46225200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:46224400-46225200	ZNF genes & repeats	GM12878-XiMat	blood
7	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:46224400-46225600	Enhancers	Primary B cells from cord blood	blood
10	chr3:46224400-46225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:46224600-46225200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:46224600-46225200	Enhancers	Fetal Thymus	thymus
13	chr3:46224600-46225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:46224600-46225600	Weak transcription	HSMMtube	muscle
15	chr3:46224800-46225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:46224800-46225800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:46224800-46226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:46224800-46226600	Enhancers	NHEK	skin
19	chr3:46225000-46225200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:46225000-46225200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:46225000-46225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:46225000-46226000	Enhancers	HMEC	breast
23	chr3:46225000-46226600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:46225000-46227000	Enhancers	NHDF-Ad	bronchial
25	chr3:46225000-46228200	Enhancers	Monocytes-CD14+_RO01746	blood

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