Variant report

Variant	rs17790799
Chromosome Location	chr13:51914784-51914785
allele	C/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	STAT3	chr13:51914478-51914825	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr13:51914465-51914827	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr13:51914504-51914827	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr13:51914522-51914797	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:51914488-51914827	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr13:51914508-51914824	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr13:51914488-51914857	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51909461..51913387-chr13:51914393..51916609,4	MCF-7	breast:

Variant related genes	Relation type
SERPINE3	TF binding region
ENSG00000253309	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs11148215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148219	0.93[EUR][1000 genomes]
rs11838784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842573	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11842878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100084	0.93[EUR][1000 genomes]
rs12100112	0.93[EUR][1000 genomes]
rs12584325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12584416	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12585171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413103	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570550	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17195027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17529985	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17790811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4941697	1.00[AMR][1000 genomes]
rs4941699	0.93[EUR][1000 genomes]
rs4942992	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4942993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942994	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4942995	0.93[EUR][1000 genomes]
rs4942996	0.93[EUR][1000 genomes]
rs4942997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942998	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942999	0.93[EUR][1000 genomes]
rs59024783	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59215783	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60860538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956888	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61956914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956917	0.93[EUR][1000 genomes]
rs61956937	0.93[EUR][1000 genomes]
rs61956938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956942	0.93[EUR][1000 genomes]
rs61956943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956945	0.86[EUR][1000 genomes]
rs61956947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956949	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956950	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956952	0.93[EUR][1000 genomes]
rs61956955	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61958268	0.86[ASN][1000 genomes]
rs73195977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195982	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195996	0.93[EUR][1000 genomes]
rs73197808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338174	0.81[EUR][1000 genomes]
rs7400061	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7988157	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992891	0.93[EUR][1000 genomes]
rs7995268	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8001625	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526756	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9563041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563047	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9563049	0.93[EUR][1000 genomes]
rs9563050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563052	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563053	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563054	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563055	0.93[EUR][1000 genomes]
rs9563056	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568564	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568578	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568580	0.81[EUR][1000 genomes]
rs9568581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568586	0.93[EUR][1000 genomes]
rs9568588	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568589	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568590	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568591	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568592	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568593	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568594	0.93[EUR][1000 genomes]
rs9568596	0.93[EUR][1000 genomes]
rs9568609	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568610	0.80[AMR][1000 genomes]
rs9634685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634844	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:51905400-51915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:51906000-51917200	Weak transcription	HSMM	muscle
4	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
5	chr13:51906200-51935400	Weak transcription	HSMMtube	muscle
6	chr13:51906800-51917200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:51907800-51933200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:51909800-51917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:51911200-51920400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:51911800-51938600	Weak transcription	Pancreas	Pancrea
11	chr13:51912600-51916200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:51913400-51915200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:51913400-51944600	Weak transcription	Aorta	Aorta
14	chr13:51913800-51918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:51914000-51915200	Enhancers	Osteobl	bone
16	chr13:51914000-51918400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:51914000-51918400	Enhancers	NHDF-Ad	bronchial
18	chr13:51914200-51914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:51914200-51915200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:51914200-51920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:51914200-51926600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:51914400-51915200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:51914400-51917200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:51914600-51915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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