Variant report

Variant	rs9321957
Chromosome Location	chr6:144331491-144331492
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11155340	0.92[ASN][1000 genomes]
rs12194305	0.81[ASN][1000 genomes]
rs12207102	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2064660	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2328537	0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2328538	0.81[ASN][1000 genomes]
rs2328539	0.81[ASN][1000 genomes]
rs2328542	0.95[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs6570602	0.85[CHB][hapmap]
rs6901529	0.82[ASN][1000 genomes]
rs6929575	0.89[ASN][1000 genomes]
rs7743691	0.85[ASN][1000 genomes]
rs7752303	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7772820	0.94[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs9321958	0.84[ASN][1000 genomes]
rs9321960	0.81[CHB][hapmap]
rs9321961	0.85[CHB][hapmap]
rs9386055	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496839	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9496860	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321957	PLAGL1	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144330000-144332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:144330000-144333600	Weak transcription	Osteobl	bone
3	chr6:144330000-144333800	Weak transcription	Adipose Nuclei	Adipose
4	chr6:144330000-144334600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:144330000-144334800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:144330000-144338200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:144330000-144340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:144330200-144333000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:144330200-144334200	Weak transcription	Fetal Kidney	kidney
10	chr6:144330200-144334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:144330200-144338000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:144331200-144331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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