Variant report

Variant	rs57839194
Chromosome Location	chr7:121051050-121051051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121044009..121046595-chr7:121049183..121051840,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11971157	0.81[ASN][1000 genomes]
rs11972392	0.81[ASN][1000 genomes]
rs11982913	0.86[ASN][1000 genomes]
rs12532811	0.81[ASN][1000 genomes]
rs17143359	0.81[ASN][1000 genomes]
rs2141360	0.81[ASN][1000 genomes]
rs2697175	0.81[ASN][1000 genomes]
rs2697178	0.81[ASN][1000 genomes]
rs2697180	0.81[ASN][1000 genomes]
rs2707458	0.85[ASN][1000 genomes]
rs2707486	0.81[ASN][1000 genomes]
rs2707489	0.81[ASN][1000 genomes]
rs2707498	0.81[ASN][1000 genomes]
rs2707499	0.81[ASN][1000 genomes]
rs2707500	0.81[ASN][1000 genomes]
rs2952580	0.81[ASN][1000 genomes]
rs4418284	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56669615	0.81[ASN][1000 genomes]
rs60993919	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466783	0.81[ASN][1000 genomes]
rs67085750	0.81[ASN][1000 genomes]
rs6950058	0.81[ASN][1000 genomes]
rs6954718	0.81[ASN][1000 genomes]
rs6957417	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6960294	0.81[ASN][1000 genomes]
rs73442206	0.81[ASN][1000 genomes]
rs7782605	0.81[ASN][1000 genomes]
rs7800162	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121046200-121051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:121046200-121052000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:121048800-121054400	Weak transcription	Small Intestine	intestine
4	chr7:121050800-121051200	Enhancers	K562	blood
5	chr7:121051000-121052000	Enhancers	Fetal Intestine Small	intestine
6	chr7:121051000-121053200	Enhancers	Fetal Intestine Large	intestine

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