Variant report

Variant	rs11950996
Chromosome Location	chr5:147124844-147124845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11739236	0.86[EUR][1000 genomes]
rs11745685	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11748881	0.84[EUR][1000 genomes]
rs12653715	0.86[EUR][1000 genomes]
rs12655012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12657336	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17717032	0.93[EUR][1000 genomes]
rs3734122	0.86[EUR][1000 genomes]
rs4312870	0.82[EUR][1000 genomes]
rs57882722	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59853509	0.86[EUR][1000 genomes]
rs61473108	0.86[EUR][1000 genomes]
rs61500793	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68048232	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6866266	0.86[EUR][1000 genomes]
rs6873493	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147111800-147126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:147112000-147126600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:147113000-147131000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147115600-147126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:147115600-147127200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:147117400-147155800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:147122600-147125200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:147122800-147133200	Enhancers	Brain Angular Gyrus	brain
10	chr5:147123800-147130400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:147124000-147126400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:147124000-147126600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:147124000-147126800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:147124000-147127600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:147124000-147128200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:147124000-147129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:147124400-147126600	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:147124400-147131200	Weak transcription	Fetal Lung	lung
19	chr5:147124600-147125200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:147124800-147125000	Enhancers	Brain Germinal Matrix	brain
21	chr5:147124800-147125200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:147124800-147125200	Enhancers	Brain Substantia Nigra	brain
23	chr5:147124800-147125400	Enhancers	Brain Inferior Temporal Lobe	brain

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