Variant report

Variant	rs6873493
Chromosome Location	chr5:147134918-147134919
allele	C/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:20)

rs_ID	r²[population]
rs11739071	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11739236	0.85[EUR][1000 genomes]
rs11740989	0.81[ASN][1000 genomes]
rs11745685	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11746607	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11748881	0.82[EUR][1000 genomes]
rs11950996	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12653715	0.85[EUR][1000 genomes]
rs12655012	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12655202	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12657336	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17717032	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3734122	0.85[EUR][1000 genomes]
rs4312870	0.80[EUR][1000 genomes]
rs57882722	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59853509	0.85[EUR][1000 genomes]
rs61473108	0.85[EUR][1000 genomes]
rs61500793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68048232	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6866266	0.85[EUR][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:19 , 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	chr5:147117400-147155800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:147129000-147136000	Weak transcription	Thymus	Thymus
4	chr5:147131400-147135200	Weak transcription	Fetal Thymus	thymus
5	chr5:147132000-147138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:147132200-147138400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147132200-147139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:147132400-147139000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:147132600-147142000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:147132800-147146200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:147133000-147139000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:147133000-147143000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:147133200-147142000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:147133200-147145600	Weak transcription	Fetal Brain Male	brain
15	chr5:147133400-147143000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:147133600-147146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:147134000-147143000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:147134600-147135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:147134600-147142400	Weak transcription	Brain Hippocampus Middle	brain

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