Variant report

Variant	rs1980625
Chromosome Location	chr20:14288800-14288801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1040825	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16994432	0.90[CEU][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs204607	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs204609	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs204644	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs204647	0.84[CHB][hapmap]
rs204648	0.84[CHB][hapmap]
rs2301024	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813155	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57031259	0.83[EUR][1000 genomes]
rs595247	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs6033934	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6042658	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6074712	0.85[JPT][hapmap]
rs6079372	0.84[JPT][hapmap]
rs6079381	1.00[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6079383	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6079385	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60877902	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7268327	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap]
rs7275116	1.00[CEU][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14284200-14292800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:14285200-14292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:14287800-14289600	Enhancers	Fetal Intestine Small	intestine
4	chr20:14288400-14288800	Enhancers	Fetal Kidney	kidney
5	chr20:14288400-14288800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr20:14288400-14289400	Enhancers	Fetal Intestine Large	intestine
7	chr20:14288600-14289200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:14288600-14289800	Enhancers	Rectal Smooth Muscle	rectum
9	chr20:14288800-14289600	Enhancers	Colon Smooth Muscle	Colon

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