Variant report

Variant	rs17758126
Chromosome Location	chr8:119987201-119987202
allele	A/G
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	BRCA1	chr8:119987098-119988000	Hela-S3	cervix:	n/a	n/a
2	TFAP2A	chr8:119987004-119987590	Hela-S3	cervix:	n/a	n/a
3	NFYA	chr8:119987114-119987990	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr8:119986739-119987756	Hela-S3	cervix:	n/a	n/a
5	EP300	chr8:119987036-119987862	Hela-S3	cervix:	n/a	chr8:119987731-119987745 chr8:119987326-119987335 chr8:119987688-119987695
6	FOS	chr8:119987181-119988017	MCF10A-Er-Src	breast:	n/a	chr8:119987472-119987484
7	STAT3	chr8:119986897-119988148	MCF10A-Er-Src	breast:	n/a	chr8:119987661-119987672
8	STAT3	chr8:119987036-119987953	Hela-S3	cervix:	n/a	chr8:119987661-119987672
9	STAT3	chr8:119987149-119988160	MCF10A-Er-Src	breast:	n/a	chr8:119987661-119987672
10	RFX5	chr8:119986811-119987977	Hela-S3	cervix:	n/a	chr8:119987339-119987354 chr8:119987140-119987149
11	FOS	chr8:119987179-119987933	MCF10A-Er-Src	breast:	n/a	chr8:119987472-119987484
12	TFAP2C	chr8:119987093-119987658	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:119986855-119988829	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF7L2	chr8:119986920-119987813	Hela-S3	cervix:	n/a	n/a
15	NFYB	chr8:119987086-119987983	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:119986927-119988114	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr8:119987183-119988033	MCF10A-Er-Src	breast:	n/a	chr8:119987661-119987672

Variant related genes	Relation type
RNU6-12P	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10505350	0.94[ASN][1000 genomes]
rs10505352	0.90[EUR][1000 genomes]
rs10955918	0.90[EUR][1000 genomes]
rs10955920	0.90[EUR][1000 genomes]
rs10955921	0.90[EUR][1000 genomes]
rs11573819	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573828	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573849	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573870	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11573897	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573905	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11985044	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986345	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11987514	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987528	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990877	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992072	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992370	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994357	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056490	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12056749	0.90[EUR][1000 genomes]
rs12675217	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676636	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677367	0.90[EUR][1000 genomes]
rs12677975	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678216	0.90[EUR][1000 genomes]
rs12679567	0.90[EUR][1000 genomes]
rs12680862	0.86[EUR][1000 genomes]
rs12681528	0.90[EUR][1000 genomes]
rs1385507	0.90[EUR][1000 genomes]
rs1385508	0.90[EUR][1000 genomes]
rs1485311	0.90[EUR][1000 genomes]
rs16891854	0.90[EUR][1000 genomes]
rs16891856	0.90[EUR][1000 genomes]
rs16891859	0.90[EUR][1000 genomes]
rs16891861	0.90[EUR][1000 genomes]
rs16891864	0.90[EUR][1000 genomes]
rs16891869	0.90[EUR][1000 genomes]
rs16891872	0.90[EUR][1000 genomes]
rs16891875	0.90[EUR][1000 genomes]
rs16891907	0.86[EUR][1000 genomes]
rs16891911	0.90[EUR][1000 genomes]
rs16891913	0.90[EUR][1000 genomes]
rs17758108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758162	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758186	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17758222	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17758258	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17758330	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17831135	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831147	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831171	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831322	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3924060	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4437685	0.90[EUR][1000 genomes]
rs4565488	0.90[EUR][1000 genomes]
rs56655201	0.86[EUR][1000 genomes]
rs56764969	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862071	0.90[EUR][1000 genomes]
rs57733873	0.86[EUR][1000 genomes]
rs58729255	0.86[EUR][1000 genomes]
rs58732819	0.90[EUR][1000 genomes]
rs59027630	0.87[ASN][1000 genomes]
rs59943296	0.90[EUR][1000 genomes]
rs60012832	0.90[EUR][1000 genomes]
rs60335297	0.90[EUR][1000 genomes]
rs60360696	0.90[EUR][1000 genomes]
rs60727179	0.90[EUR][1000 genomes]
rs61280141	0.85[ASN][1000 genomes]
rs61364754	0.90[EUR][1000 genomes]
rs61679139	0.86[EUR][1000 genomes]
rs61706918	0.90[EUR][1000 genomes]
rs6469791	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6996974	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73709519	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73709526	0.90[EUR][1000 genomes]
rs73711408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823809	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826524	0.94[ASN][1000 genomes]
rs7829123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837123	0.93[ASN][1000 genomes]
rs923100	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9642843	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119982800-119992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:119985400-119988600	Enhancers	Hela-S3	cervix
3	chr8:119986600-119988000	Enhancers	Fetal Lung	lung
4	chr8:119986800-119987600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:119987000-119988000	Enhancers	HUVEC	blood vessel
6	chr8:119987200-119987800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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