Variant report

Variant	rs4244206
Chromosome Location	chr5:90389450-90389451
allele	A/C
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:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10037172	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1818349	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1830364	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2367279	0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs2367284	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2697542	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2697548	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973446	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7449334	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9293558	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4244206	PRMT3	trans	cerebellum	SCAN

Chromatin state (count:30 , 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	chr5:90387200-90390400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:90387200-90390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:90387200-90390600	Weak transcription	A549	lung
11	chr5:90387200-90391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:90387200-90391200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:90387200-90392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:90387200-90392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:90387200-90392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:90387400-90391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:90387400-90391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:90387600-90391000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:90387600-90391200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:90387600-90391200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:90387600-90391200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:90387800-90390600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:90387800-90390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:90387800-90397600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:90388600-90389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:90388600-90390000	Enhancers	Fetal Intestine Small	intestine
27	chr5:90388800-90389600	Enhancers	Fetal Intestine Large	intestine
28	chr5:90389200-90389600	Enhancers	Fetal Kidney	kidney
29	chr5:90389200-90389600	Flanking Active TSS	HepG2	liver
30	chr5:90389400-90389800	Enhancers	Fetal Heart	heart

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