Variant report

Variant	rs948959
Chromosome Location	chr11:76925075-76925076
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	chr11:76920489..76922391-chr11:76924150..76926078,2	K562	blood:

Variant related genes	Relation type
ENSG00000137474	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10793240	0.98[ASN][1000 genomes]
rs10793243	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10899366	0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs1893756	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893757	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1944033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2156862	0.83[EUR][1000 genomes]
rs2156863	1.00[CEU][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2276289	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.97[ASN][1000 genomes]
rs2602471	0.83[CHD][hapmap];0.80[MEX][hapmap]
rs2602474	0.83[CHD][hapmap];0.80[MEX][hapmap]
rs2602480	1.00[CEU][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2602481	1.00[ASW][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap]
rs2725829	0.83[CHD][hapmap]
rs2729758	0.90[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap]
rs2729772	0.90[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2729775	0.84[JPT][hapmap]
rs2853085	0.83[CHD][hapmap];0.80[MEX][hapmap]
rs2853094	0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs3740769	0.87[ASW][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs4944151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap]
rs4944152	0.83[ASN][1000 genomes]
rs7125798	0.87[ASW][hapmap];0.89[MKK][hapmap]
rs733358	1.00[ASW][hapmap];0.87[CHD][hapmap];0.90[MEX][hapmap]
rs869707	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs876319	0.83[CHD][hapmap];0.80[MEX][hapmap]
rs9634030	0.90[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv897936	chr11:76900813-76935002	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs948959	PASK	trans	brain	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76899800-76928200	Strong transcription	Liver	Liver
2	chr11:76903600-76928000	Weak transcription	Colonic Mucosa	Colon
3	chr11:76903600-76928600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:76904200-76927600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:76904600-76927800	Strong transcription	Fetal Intestine Large	intestine
6	chr11:76908400-76928200	Strong transcription	Spleen	Spleen
7	chr11:76919200-76927600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:76920000-76926600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:76922400-76926600	Strong transcription	Placenta	Placenta
10	chr11:76922600-76926600	Strong transcription	Adipose Nuclei	Adipose
11	chr11:76922600-76930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:76922800-76927400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:76922800-76928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:76923800-76926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:76924000-76926000	Strong transcription	Pancreas	Pancrea
16	chr11:76924200-76926400	Strong transcription	Gastric	stomach
17	chr11:76924200-76926800	Weak transcription	Left Ventricle	heart
18	chr11:76924400-76927400	Strong transcription	Ovary	ovary
19	chr11:76924600-76926000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:76924800-76925600	Strong transcription	Fetal Stomach	stomach
21	chr11:76925000-76925200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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