Variant report

Variant	rs2265555
Chromosome Location	chr1:193242974-193242975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1221501	0.86[AFR][1000 genomes]
rs12531	1.00[CEU][hapmap]
rs1536100	0.86[AFR][1000 genomes]
rs16835169	0.84[YRI][hapmap]
rs16835204	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs41305084	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4657746	0.86[AFR][1000 genomes]
rs506721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.90[AFR][1000 genomes]
rs56986460	0.93[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs6665739	0.83[YRI][hapmap]
rs6665751	0.83[YRI][hapmap]
rs74130935	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.85[AFR][1000 genomes]
rs74130937	0.86[AFR][1000 genomes]
rs74130938	0.93[AFR][1000 genomes]
rs74130939	0.93[AFR][1000 genomes]
rs74130940	0.90[AFR][1000 genomes]
rs74130941	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74130942	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7518409	1.00[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7522932	0.81[YRI][hapmap]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7556154	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7556241	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs817134	0.93[AFR][1000 genomes]
rs817135	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
11	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:193235400-193243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:193239800-193254600	Weak transcription	HSMM	muscle
16	chr1:193240600-193243400	Weak transcription	HSMMtube	muscle
17	chr1:193241000-193243400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:193241000-193251800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:193242200-193243800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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