Variant report

Variant	rs12655012
Chromosome Location	chr5:147127979-147127980
allele	C/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	0.81[ASN][1000 genomes]
rs11739236	0.82[EUR][1000 genomes]
rs11740989	0.86[CEU][hapmap]
rs11745685	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746607	0.80[ASN][1000 genomes]
rs11950996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12653715	0.82[EUR][1000 genomes]
rs12655202	0.87[CEU][hapmap];0.92[YRI][hapmap]
rs12657336	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17717032	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3734122	0.82[EUR][1000 genomes]
rs57882722	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59853509	0.82[EUR][1000 genomes]
rs61473108	0.82[EUR][1000 genomes]
rs61500793	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68048232	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6866266	0.82[EUR][1000 genomes]
rs6873493	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:30 , 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	chr5:147113000-147131000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:147117400-147155800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:147122800-147133200	Enhancers	Brain Angular Gyrus	brain
5	chr5:147123800-147130400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:147124000-147128200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:147124000-147129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:147124400-147131200	Weak transcription	Fetal Lung	lung
9	chr5:147125200-147129800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:147125800-147131600	Weak transcription	Brain Germinal Matrix	brain
11	chr5:147126600-147128000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:147126600-147128600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:147126600-147129600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:147126600-147130400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:147126600-147132200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:147126600-147132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:147126800-147130600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:147126800-147133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:147127000-147128000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:147127000-147132000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:147127200-147130600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:147127200-147132000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:147127400-147128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:147127400-147128200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:147127400-147131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:147127400-147131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:147127600-147128400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:147127600-147129000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:147127800-147128200	Weak transcription	Brain Anterior Caudate	brain
30	chr5:147127800-147129000	Weak transcription	Brain Substantia Nigra	brain

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