Variant report

Variant	rs57543384
Chromosome Location	chr7:47713667-47713668
allele	A/G
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]
rs10156019	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233927	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11765162	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12334283	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28442161	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6945881	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7458333	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47706000-47721600	Enhancers	Placenta	Placenta
2	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:47709600-47717000	Weak transcription	HMEC	breast
4	chr7:47710600-47716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:47711000-47717800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:47711000-47718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:47711200-47714200	Weak transcription	Spleen	Spleen
8	chr7:47711800-47715400	Enhancers	HepG2	liver
9	chr7:47711800-47716800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:47712200-47717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:47712400-47717000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:47713000-47715200	Weak transcription	Hela-S3	cervix
13	chr7:47713000-47716400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:47713000-47716400	Weak transcription	A549	lung
15	chr7:47713000-47717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:47713200-47714000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:47713200-47716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:47713200-47717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:47713200-47718000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:47713200-47718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:47713200-47720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:47713400-47714000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:47713400-47718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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