Variant report

Variant	rs56027748
Chromosome Location	chr7:136980778-136980779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10248429	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262764	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17169038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60901799	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467703	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6961948	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73728260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
3	chr7:136974600-136982600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:136974600-136983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:136975200-136982600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:136975200-136991000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:136976600-136991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:136978200-136983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:136978800-136981200	Enhancers	Brain Hippocampus Middle	brain
10	chr7:136979000-136981000	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:136979200-136989800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:136979400-136990800	Enhancers	Brain Anterior Caudate	brain
13	chr7:136979600-136982200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:136979800-136982200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:136980000-136981000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:136980000-136981600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:136980400-136984200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:136980600-136980800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:136980600-136980800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:136980600-136980800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:136980600-136981200	Enhancers	Brain Substantia Nigra	brain
22	chr7:136980600-136981600	Enhancers	Fetal Lung	lung
23	chr7:136980600-136982000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:136980600-136982200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:136980600-136982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:136980600-136983800	Enhancers	Fetal Heart	heart
27	chr7:136980600-136984600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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