Variant report

Variant	rs2792973
Chromosome Location	chr1:84573244-84573245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1021491	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10874427	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12756327	0.81[EUR][1000 genomes]
rs1603000	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2250806	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642186	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2792975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2792976	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907193	0.87[AMR][1000 genomes]
rs594631	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs599686	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs603939	0.94[EUR][1000 genomes]
rs617568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638545	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs648856	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650629	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs652489	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6576959	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6701486	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703653	0.88[AMR][1000 genomes]
rs7520283	0.88[AMR][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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569000-84585000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84569200-84573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:84569200-84573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:84569200-84573400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:84569200-84573600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:84569200-84581400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:84569200-84587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84569400-84573600	Weak transcription	Fetal Lung	lung
10	chr1:84569400-84579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:84569400-84587400	Weak transcription	Ovary	ovary
12	chr1:84569600-84573400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:84569600-84573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:84569800-84583600	Weak transcription	HSMM	muscle
15	chr1:84572600-84573800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:84572600-84573800	Enhancers	HSMMtube	muscle
17	chr1:84572600-84574000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:84572600-84574000	Enhancers	HMEC	breast
19	chr1:84572600-84574000	Enhancers	NHDF-Ad	bronchial
20	chr1:84572800-84573400	Enhancers	NH-A	brain
21	chr1:84572800-84573800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:84572800-84573800	Enhancers	NHEK	skin
23	chr1:84572800-84574000	Enhancers	NHLF	lung
24	chr1:84573000-84573400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84573000-84573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:84573000-84573800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:84573000-84573800	Enhancers	Osteobl	bone
28	chr1:84573000-84574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:84573000-84574000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:84573200-84573600	Enhancers	Placenta Amnion	Placenta Amnion

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