Variant report

Variant	rs12518689
Chromosome Location	chr5:90390580-90390581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90384749..90386468-chr5:90389103..90391299,2	K562	blood:
2	chr5:90389673..90399904-chr5:90673387..90683638,16	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10063704	0.88[CEU][hapmap]
rs10454910	0.91[YRI][hapmap]
rs10942625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11739054	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12188249	0.85[YRI][hapmap]
rs12652491	0.82[AFR][1000 genomes]
rs12657388	0.87[AFR][1000 genomes]
rs13154380	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1808084	0.88[CEU][hapmap]
rs1852732	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2367280	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2367282	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2367283	0.88[CEU][hapmap]
rs4386756	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs4489092	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4512153	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4608951	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916845	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7707023	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7731652	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90358400-90391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:90370600-90397600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:90380000-90391800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90385800-90397400	Weak transcription	Fetal Lung	lung
5	chr5:90386000-90391600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:90386800-90400800	Weak transcription	K562	blood
7	chr5:90387000-90392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90387200-90390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:90387200-90390600	Weak transcription	A549	lung
10	chr5:90387200-90391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:90387200-90391200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:90387200-90392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:90387200-90392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:90387200-90392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:90387400-90391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:90387400-90391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:90387600-90391000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:90387600-90391200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:90387600-90391200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:90387600-90391200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:90387800-90390600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:90387800-90390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:90387800-90397600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:90389600-90392000	Weak transcription	Fetal Kidney	kidney
25	chr5:90389800-90390800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:90390200-90391600	Enhancers	Fetal Heart	heart
27	chr5:90390400-90392000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:90390400-90392000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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