Variant report

Variant	rs72740261
Chromosome Location	chr1:193244763-193244764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193230026..193232497-chr1:193244244..193247099,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10494675	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801186	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10921331	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119992	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123793	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124921	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137391	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141029	0.95[AFR][1000 genomes]
rs12141336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141559	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143573	1.00[AFR][1000 genomes]
rs12145101	1.00[AFR][1000 genomes]
rs12145609	0.81[EUR][1000 genomes]
rs12145761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17526825	1.00[AFR][1000 genomes]
rs17528639	0.94[EUR][1000 genomes]
rs17592633	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28930673	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6663374	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667917	1.00[AFR][1000 genomes]
rs6682904	0.86[EUR][1000 genomes]
rs6685991	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731066	0.90[AFR][1000 genomes]
rs72731068	0.95[AFR][1000 genomes]
rs72740227	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740246	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817137	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
7	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:193239800-193254600	Weak transcription	HSMM	muscle
10	chr1:193241000-193251800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:193243200-193244800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:193243400-193244800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:193243800-193245000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:193243800-193250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:193243800-193254400	Weak transcription	HSMMtube	muscle
16	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:193244400-193245600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:193244600-193244800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:193244600-193245000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:193244600-193245400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:193244600-193245400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:193244600-193245400	Strong transcription	Primary T cells from cord blood	blood

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