Variant report

Variant	rs61992718
Chromosome Location	chr14:47122877-47122878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10130103	0.83[ASN][1000 genomes]
rs10130214	0.88[ASN][1000 genomes]
rs10131265	0.86[ASN][1000 genomes]
rs10131555	0.86[ASN][1000 genomes]
rs10131649	0.86[ASN][1000 genomes]
rs10133602	0.92[ASN][1000 genomes]
rs10133870	0.88[ASN][1000 genomes]
rs10136304	0.86[ASN][1000 genomes]
rs10139381	0.86[ASN][1000 genomes]
rs10143404	0.86[ASN][1000 genomes]
rs10145257	0.86[ASN][1000 genomes]
rs10146543	0.88[ASN][1000 genomes]
rs10148225	0.97[ASN][1000 genomes]
rs10149817	0.88[ASN][1000 genomes]
rs10150421	0.83[ASN][1000 genomes]
rs10151161	0.88[ASN][1000 genomes]
rs1020895	0.86[ASN][1000 genomes]
rs1020898	1.00[ASN][1000 genomes]
rs10454682	0.86[ASN][1000 genomes]
rs11157517	0.88[ASN][1000 genomes]
rs1117799	0.86[ASN][1000 genomes]
rs11844038	0.88[ASN][1000 genomes]
rs11844488	0.83[ASN][1000 genomes]
rs1389601	0.86[ASN][1000 genomes]
rs1494082	0.81[ASN][1000 genomes]
rs1494083	0.83[ASN][1000 genomes]
rs1494087	0.81[ASN][1000 genomes]
rs1494088	0.86[ASN][1000 genomes]
rs1564064	1.00[ASN][1000 genomes]
rs17117454	0.83[ASN][1000 genomes]
rs17742196	0.83[ASN][1000 genomes]
rs4898552	0.88[ASN][1000 genomes]
rs4898555	0.94[ASN][1000 genomes]
rs4900704	0.83[ASN][1000 genomes]
rs4900705	0.88[ASN][1000 genomes]
rs61992693	0.88[ASN][1000 genomes]
rs61992717	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72674781	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751278	chr14:46718250-47225891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv901863	chr14:46797353-47247399	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2829996	chr14:46799990-47344432	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901870	chr14:46825242-47125523	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv542086	chr14:46905406-47662394	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv517764	chr14:47083005-47419867	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47111400-47123200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:47121400-47125200	Weak transcription	Fetal Intestine Small	intestine
3	chr14:47122400-47123400	Enhancers	Fetal Stomach	stomach
4	chr14:47122600-47124800	Strong transcription	Rectal Mucosa Donor 31	rectum

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