Variant report

Variant	rs12657336
Chromosome Location	chr5:147139449-147139450
allele	A/G
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];0.89[ASN][1000 genomes]
rs11739236	0.85[EUR][1000 genomes]
rs11740989	0.86[CEU][hapmap];0.88[CHB][hapmap];0.96[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11745685	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746607	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11748881	0.82[EUR][1000 genomes]
rs11950996	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12653715	0.85[EUR][1000 genomes]
rs12655012	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12655202	0.87[CEU][hapmap];0.94[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17717032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3734122	0.85[EUR][1000 genomes]
rs4312870	0.80[EUR][1000 genomes]
rs57882722	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59853509	0.85[EUR][1000 genomes]
rs61473108	0.85[EUR][1000 genomes]
rs61500793	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68048232	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6866266	0.85[EUR][1000 genomes]
rs6873493	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:24 , 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	chr5:147132600-147142000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:147132800-147146200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:147133000-147143000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:147133200-147142000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:147133200-147145600	Weak transcription	Fetal Brain Male	brain
8	chr5:147133400-147143000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:147133600-147146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:147134000-147143000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:147134600-147142400	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:147137000-147145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:147138400-147140800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:147138800-147140400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:147139000-147139600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:147139000-147139800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:147139000-147140000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:147139000-147140000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:147139000-147140400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:147139000-147140600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:147139000-147140800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:147139200-147140400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:147139200-147140400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:147139200-147140800	Enhancers	Pancreatic Islets	Pancreatic Islet

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