Variant report

Variant	rs2831134
Chromosome Location	chr21:29094649-29094650
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr21:29094448-29094702	Hela-S3	cervix:	n/a	chr21:29094585-29094596
2	USF2	chr21:29094466-29094690	H1-hESC	embryonic stem cell:	n/a	chr21:29094585-29094596
3	TCF12	chr21:29094062-29094993	ECC-1	luminal epithelium:	n/a	n/a
4	USF1	chr21:29094058-29094864	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr21:29094332-29094877	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr21:29094308-29094919	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr21:29094384-29095056	ECC-1	luminal epithelium:	n/a	n/a
8	USF1	chr21:29094356-29094731	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr21:29094491-29094772	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFIC	chr21:29094342-29094962	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr21:29094163-29094816	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr21:29094227-29094960	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
LINC00113	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10211950	0.84[ASN][1000 genomes]
rs1074306	0.84[YRI][hapmap]
rs12329918	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1346930	0.85[ASN][1000 genomes]
rs1367714	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1367716	0.84[ASN][1000 genomes]
rs1367717	0.84[ASN][1000 genomes]
rs1579524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1835647	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2116251	0.87[ASN][1000 genomes]
rs2831132	0.82[YRI][hapmap]
rs2831137	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2831138	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28428846	0.87[ASN][1000 genomes]
rs3989358	0.88[ASN][1000 genomes]
rs61643255	0.89[ASN][1000 genomes]
rs7275370	0.85[ASN][1000 genomes]
rs7275444	0.85[ASN][1000 genomes]
rs7281390	0.87[ASN][1000 genomes]
rs7281763	0.84[ASN][1000 genomes]
rs73390017	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8127639	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs933156	0.84[ASN][1000 genomes]
rs9981712	0.85[ASN][1000 genomes]
rs9982947	0.94[ASN][1000 genomes]
rs9983029	0.84[ASN][1000 genomes]
rs9983323	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv913670	chr21:29022265-29525767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1059134	chr21:29061408-29188185	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29094000-29094800	Enhancers	Duodenum Mucosa	Duodenum
2	chr21:29094200-29095000	Enhancers	Lung	lung
3	chr21:29094200-29095000	Enhancers	Stomach Mucosa	stomach
4	chr21:29094200-29095200	Enhancers	NHEK	skin
5	chr21:29094200-29095400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:29094400-29095000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:29094400-29095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:29094600-29094800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr21:29094600-29095000	Active TSS	Colon Smooth Muscle	Colon
10	chr21:29094600-29095000	Enhancers	Hela-S3	cervix
11	chr21:29094600-29095000	Flanking Active TSS	HMEC	breast

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