Variant report

Variant	rs17717032
Chromosome Location	chr5:147145596-147145597
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11739071	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11739236	0.80[EUR][1000 genomes]
rs11740989	0.86[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11745685	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746607	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11950996	0.93[EUR][1000 genomes]
rs12653715	0.80[EUR][1000 genomes]
rs12655012	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12655202	0.87[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12657336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3734122	0.80[EUR][1000 genomes]
rs57882722	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59853509	0.80[EUR][1000 genomes]
rs61473108	0.80[EUR][1000 genomes]
rs61500793	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68048232	0.82[EUR][1000 genomes]
rs6866266	0.80[EUR][1000 genomes]
rs6873493	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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:22 , 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	chr5:147132800-147146200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:147133200-147145600	Weak transcription	Fetal Brain Male	brain
5	chr5:147133600-147146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:147140800-147153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147142000-147155600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:147142200-147145600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:147142800-147154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:147143200-147145600	Weak transcription	Fetal Brain Female	brain
11	chr5:147143800-147147800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:147143800-147153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:147144000-147145600	Weak transcription	Brain Angular Gyrus	brain
14	chr5:147144000-147145600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:147144000-147146000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:147144000-147146000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:147144200-147151200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:147144200-147152400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:147144800-147147800	Enhancers	Brain Substantia Nigra	brain
20	chr5:147145000-147148400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:147145200-147146400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:147145400-147146000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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