Variant report

Variant	rs1393921
Chromosome Location	chr3:87904493-87904494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1021339	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354324	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1354326	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503429	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1503434	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1503435	0.81[AFR][1000 genomes]
rs17025064	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17025121	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1813449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875715	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1946570	0.84[ASN][1000 genomes]
rs2062812	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2130353	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130354	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28513441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919246	0.92[AFR][1000 genomes]
rs2919282	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932284	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932287	0.90[AFR][1000 genomes]
rs2932299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932308	0.92[AFR][1000 genomes]
rs2938261	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2938264	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2938271	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938272	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938281	0.81[AFR][1000 genomes]
rs34979865	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6764864	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7646993	0.93[CHB][hapmap]
rs923478	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs994130	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv460757	chr3:87863280-87949733	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv590919	chr3:87863280-87949733	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv834758	chr3:87867363-88014975	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87867800-87912800	Weak transcription	K562	blood
2	chr3:87882200-87907600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:87897600-87904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:87897600-87906800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:87904000-87904600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:87904000-87906200	Enhancers	NHDF-Ad	bronchial
7	chr3:87904200-87904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:87904200-87905000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:87904200-87905200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:87904200-87905200	Flanking Active TSS	A549	lung
11	chr3:87904200-87905200	Enhancers	HSMMtube	muscle
12	chr3:87904200-87905200	Enhancers	HUVEC	blood vessel
13	chr3:87904200-87906000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:87904200-87906000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:87904200-87906200	Enhancers	HSMM	muscle
16	chr3:87904400-87904600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr3:87904400-87904800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:87904400-87905000	Enhancers	Osteobl	bone

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