Variant report

Variant	rs7800454
Chromosome Location	chr7:137092781-137092782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1156142	0.82[YRI][hapmap]
rs1156143	0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1863037	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7800454	AC078842.3	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
2	chr7:137080600-137106000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:137085200-137102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:137086000-137102200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:137086000-137102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:137088200-137093800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:137088400-137094600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:137089800-137092800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137089800-137092800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:137090200-137093000	Weak transcription	Osteobl	bone
11	chr7:137091000-137101200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:137091400-137124600	Weak transcription	Aorta	Aorta
13	chr7:137091600-137102000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:137092000-137093200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137092000-137093400	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr7:137092200-137092800	Active TSS	Brain Anterior Caudate	brain
17	chr7:137092600-137092800	Enhancers	Brain Angular Gyrus	brain
18	chr7:137092600-137092800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr7:137092600-137092800	Enhancers	Fetal Brain Female	brain
20	chr7:137092600-137093000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:137092600-137093400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:137092600-137093400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:137092600-137093400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:137092600-137093400	Flanking Active TSS	Brain Cingulate Gyrus	brain

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