Variant report

Variant	rs11694121
Chromosome Location	chr2:54659942-54659943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10181826	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10496030	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125539	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12470235	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13393949	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35636918	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4505569	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56257354	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804673	0.91[EUR][1000 genomes]
rs72804674	0.90[EUR][1000 genomes]
rs7419821	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574630	0.86[AMR][1000 genomes];0.93[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:41 , 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	chr2:54654200-54660200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:54654400-54660600	Enhancers	Fetal Brain Male	brain
5	chr2:54654800-54660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54655200-54660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:54656000-54660200	Enhancers	Fetal Heart	heart
8	chr2:54656200-54660200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:54656600-54660200	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:54656800-54660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54656800-54660200	Enhancers	Right Atrium	heart
12	chr2:54656800-54663200	Enhancers	Fetal Lung	lung
13	chr2:54656800-54665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:54657200-54660200	Enhancers	Brain Anterior Caudate	brain
15	chr2:54657200-54660200	Enhancers	Psoas Muscle	Psoas
16	chr2:54657400-54660200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:54657800-54660400	Weak transcription	HSMMtube	muscle
18	chr2:54658200-54660800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:54658400-54660200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:54658400-54662200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:54658400-54665400	Weak transcription	Pancreas	Pancrea
22	chr2:54658600-54660400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:54658600-54664000	Weak transcription	Spleen	Spleen
24	chr2:54658800-54660000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:54658800-54660200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:54659000-54660000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:54659200-54660000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:54659200-54660000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:54659200-54660000	Enhancers	Fetal Kidney	kidney
30	chr2:54659200-54660200	Enhancers	Brain Angular Gyrus	brain
31	chr2:54659200-54660200	Enhancers	Left Ventricle	heart
32	chr2:54659200-54660600	Enhancers	Brain Hippocampus Middle	brain
33	chr2:54659200-54660800	Enhancers	Fetal Stomach	stomach
34	chr2:54659400-54660000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:54659600-54660200	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:54659600-54660200	Enhancers	Right Ventricle	heart
37	chr2:54659600-54660600	Enhancers	Ovary	ovary
38	chr2:54659800-54661000	Weak transcription	HUVEC	blood vessel
39	chr2:54659800-54661400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:54659800-54661600	Enhancers	Lung	lung
41	chr2:54659800-54665400	Weak transcription	Brain Inferior Temporal Lobe	brain

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