Variant report

Variant	rs7114092
Chromosome Location	chr11:33645458-33645459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1033543	0.82[MEX][hapmap]
rs4142963	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4333997	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4755237	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4755769	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4755770	0.86[ASN][1000 genomes]
rs4755771	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4755778	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112840	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7117579	0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7949170	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7114092	PAMR1	cis	parietal	SCAN
rs7114092	C11orf41	cis	brain	BrainEAC

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33633800-33652400	Weak transcription	Fetal Brain Female	brain
2	chr11:33640600-33666400	Weak transcription	Brain Germinal Matrix	brain
3	chr11:33640800-33673600	Weak transcription	Fetal Brain Male	brain
4	chr11:33642600-33673600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:33642800-33645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:33642800-33657400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:33643000-33673600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:33643200-33646000	Enhancers	Fetal Muscle Leg	muscle
9	chr11:33643800-33646000	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:33643800-33646000	Enhancers	GM12878-XiMat	blood
11	chr11:33644200-33646000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:33644400-33645600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:33644400-33645600	Weak transcription	HSMM	muscle
14	chr11:33644400-33646200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:33644400-33652600	Weak transcription	NH-A	brain
16	chr11:33644400-33654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:33644400-33654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:33644600-33652400	Weak transcription	Osteobl	bone
19	chr11:33644600-33657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:33644800-33646000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:33644800-33652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:33645000-33646000	Enhancers	Fetal Thymus	thymus
23	chr11:33645200-33645800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:33645200-33646000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:33645400-33645600	Enhancers	HSMMtube	muscle
26	chr11:33645400-33645800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:33645400-33646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:33645400-33646000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:33645400-33646000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:33645400-33646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:33645400-33646000	Enhancers	Pancreas	Pancrea
32	chr11:33645400-33646000	Enhancers	Skeletal Muscle Female	skeletal muscle

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