Variant report

Variant	rs17045894
Chromosome Location	chr2:54660484-54660485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10197675	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13410583	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417725	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13422533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17045872	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17045876	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17045879	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5027315	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55820245	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55988726	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57310962	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58805636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59072058	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911198	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72911200	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7574815	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7575035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587404	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7589057	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54654000-54663200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:54654000-54664200	Enhancers	Adipose Nuclei	Adipose
3	chr2:54654400-54660600	Enhancers	Fetal Brain Male	brain
4	chr2:54654800-54660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:54656800-54663200	Enhancers	Fetal Lung	lung
6	chr2:54656800-54665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:54658200-54660800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:54658400-54662200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:54658400-54665400	Weak transcription	Pancreas	Pancrea
10	chr2:54658600-54664000	Weak transcription	Spleen	Spleen
11	chr2:54659200-54660600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:54659200-54660800	Enhancers	Fetal Stomach	stomach
13	chr2:54659600-54660600	Enhancers	Ovary	ovary
14	chr2:54659800-54661000	Weak transcription	HUVEC	blood vessel
15	chr2:54659800-54661400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:54659800-54661600	Enhancers	Lung	lung
17	chr2:54659800-54665400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:54660000-54661400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:54660000-54663000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:54660000-54664000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:54660000-54665200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:54660200-54661000	Weak transcription	Right Atrium	heart
23	chr2:54660200-54661400	Weak transcription	Right Ventricle	heart
24	chr2:54660200-54661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:54660200-54662200	Weak transcription	Fetal Heart	heart
26	chr2:54660200-54662400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:54660200-54663800	Weak transcription	Left Ventricle	heart
28	chr2:54660200-54664600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:54660200-54665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:54660200-54665400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:54660200-54666200	Weak transcription	Psoas Muscle	Psoas
32	chr2:54660200-54666600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:54660200-54668200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:54660400-54661000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:54660400-54663200	Enhancers	HSMMtube	muscle

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