Variant report

Variant	rs17019510
Chromosome Location	chr1:212816729-212816730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:212816461-212816837	A549	lung:	n/a	n/a
2	USF1	chr1:212816483-212816797	A549	lung:	n/a	n/a
3	BHLHE40	chr1:212816586-212816786	K562	blood:	n/a	n/a
4	USF1	chr1:212816443-212816858	K562	blood:	n/a	n/a
5	USF1	chr1:212816505-212816809	K562	blood:	n/a	n/a
6	USF1	chr1:212816505-212816775	SK-N-SH_RA	brain:	n/a	n/a
7	USF1	chr1:212816418-212816878	ECC-1	luminal epithelium:	n/a	n/a
8	USF1	chr1:212816518-212816782	SK-N-SH_RA	brain:	n/a	n/a
9	USF1	chr1:212816474-212816868	A549	lung:	n/a	n/a
10	USF1	chr1:212816472-212816859	SK-N-SH	brain:	n/a	n/a
11	USF2	chr1:212816501-212816800	Hela-S3	cervix:	n/a	chr1:212816649-212816660
12	USF1	chr1:212816489-212816815	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr1:212816551-212816768	H1-hESC	embryonic stem cell:	n/a	chr1:212816649-212816660
14	USF1	chr1:212816528-212816732	A549	lung:	n/a	n/a
15	USF1	chr1:212816432-212816846	ECC-1	luminal epithelium:	n/a	n/a
16	USF1	chr1:212816504-212816835	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr1:212816474-212816927	HCT-116	colon:	n/a	n/a
18	USF2	chr1:212816599-212816799	HepG2	liver:	n/a	chr1:212816649-212816660
19	USF1	chr1:212816399-212816882	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212731186..212732760-chr1:212816538..212818600,2	K562	blood:
2	chr1:212816407..212819335-chr1:212838741..212840646,2	MCF-7	breast:
3	chr1:212816188..212818854-chr1:212818916..212822054,3	K562	blood:
4	chr1:212814589..212817462-chr1:212838338..212841105,2	K562	blood:
5	chr1:212816188..212818659-chr1:212819327..212822364,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226036	TF binding region
ENSG00000226036	Chromatin interaction
ENSG00000237980	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10746436	1.00[CHB][hapmap]
rs10864003	1.00[CHB][hapmap]
rs1126526	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12059590	1.00[EUR][1000 genomes]
rs12069714	1.00[EUR][1000 genomes]
rs12075398	1.00[EUR][1000 genomes]
rs12075971	1.00[EUR][1000 genomes]
rs17019266	1.00[CHB][hapmap]
rs17019397	1.00[CHB][hapmap]
rs2007776	1.00[CHB][hapmap]
rs2359321	1.00[CHB][hapmap]
rs2456815	1.00[CHB][hapmap]
rs492231	1.00[CHB][hapmap]
rs536040	1.00[CHB][hapmap]
rs56412520	1.00[EUR][1000 genomes]
rs59478106	1.00[EUR][1000 genomes]
rs60292092	1.00[EUR][1000 genomes]
rs641053	1.00[CHB][hapmap]
rs73077780	1.00[EUR][1000 genomes]
rs73077781	1.00[EUR][1000 genomes]
rs73077794	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549085	1.00[CHB][hapmap]
rs9429888	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers 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	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 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	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
2	chr1:212811000-212816800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:212812400-212821800	Weak transcription	Fetal Lung	lung
4	chr1:212812800-212817400	Weak transcription	Thymus	Thymus
5	chr1:212812800-212819200	Weak transcription	Lung	lung
6	chr1:212813000-212817200	Weak transcription	Fetal Thymus	thymus
7	chr1:212814200-212818000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:212814200-212821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:212815800-212818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:212816000-212817200	Weak transcription	Left Ventricle	heart
11	chr1:212816600-212820400	Enhancers	Fetal Intestine Small	intestine

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