Variant report

Variant	rs41453047
Chromosome Location	chr7:83625133-83625134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12154732	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12155350	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs55635951	0.97[EUR][1000 genomes]
rs62473886	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62473889	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473890	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62473897	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62473903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62473917	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6955283	0.96[AFR][1000 genomes];0.88[AMR][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	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv888622	chr7:83526743-83631376	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:83609800-83650400	Weak transcription	NHLF	lung
10	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:83612200-83626400	Weak transcription	NHDF-Ad	bronchial
13	chr7:83614000-83625600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:83617200-83625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:83622800-83643200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:83623600-83634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:83624400-83628000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:83624400-83651600	Weak transcription	Fetal Intestine Small	intestine
19	chr7:83624600-83625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:83624600-83625400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr7:83624600-83625400	Strong transcription	Fetal Lung	lung
22	chr7:83624600-83625600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83624600-83625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:83624600-83628000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:83624600-83629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:83624800-83625600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:83625000-83626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:83625000-83646800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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