Variant report

Variant	rs360193
Chromosome Location	chr14:47106487-47106488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10134127	0.90[EUR][1000 genomes]
rs10141379	0.90[EUR][1000 genomes]
rs10147858	0.91[EUR][1000 genomes]
rs1020897	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10467720	0.90[EUR][1000 genomes]
rs10782412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11847234	0.90[EUR][1000 genomes]
rs12887038	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12887571	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12896331	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1381641	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1462390	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1462398	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1472242	0.84[ASN][1000 genomes]
rs1494086	0.84[ASN][1000 genomes]
rs1494091	0.86[EUR][1000 genomes]
rs1599585	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1602993	0.90[EUR][1000 genomes]
rs2045745	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167583	0.91[EUR][1000 genomes]
rs2199459	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2219684	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2220812	0.83[ASN][1000 genomes]
rs2642088	0.90[EUR][1000 genomes]
rs2817527	0.81[EUR][1000 genomes]
rs2817536	0.85[EUR][1000 genomes]
rs2817569	0.81[CEU][hapmap]
rs3007060	0.84[ASN][1000 genomes]
rs360181	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs360182	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs360183	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs360184	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360185	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360192	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs414929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4459473	0.88[EUR][1000 genomes]
rs7156303	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003496	0.84[ASN][1000 genomes]
rs8012230	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8014441	0.90[EUR][1000 genomes]
rs8015548	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1046083	chr14:47073750-47110060	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	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	chr14:47096600-47108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:47106200-47106600	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr14:47106400-47107800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr14:47106400-47108400	Strong transcription	Rectal Mucosa Donor 31	rectum

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