Variant report

Variant	rs12050389
Chromosome Location	chr14:24822807-24822808
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	HNF4A	chr14:24822764-24823008	HepG2	liver:	n/a	chr14:24822923-24822938 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822919-24822941 chr14:24822923-24822938 chr14:24822929-24822937 chr14:24822924-24822936 chr14:24822924-24822936 chr14:24822923-24822937 chr14:24822922-24822937 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822923-24822938 chr14:24822923-24822937 chr14:24822923-24822936 chr14:24822924-24822937 chr14:24822923-24822936 chr14:24822921-24822939 chr14:24822923-24822936
2	FOSL2	chr14:24822727-24823123	HepG2	liver:	n/a	chr14:24822991-24822998 chr14:24822968-24822975 chr14:24822968-24822976 chr14:24822968-24822976
3	JUND	chr14:24822793-24823122	HepG2	liver:	n/a	chr14:24822991-24822998 chr14:24822968-24822975 chr14:24822968-24822976 chr14:24822968-24822976
4	EP300	chr14:24822702-24823159	HepG2	liver:	n/a	chr14:24822968-24822977
5	HNF4A	chr14:24822728-24823061	HepG2	liver:	n/a	chr14:24822923-24822938 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822919-24822941 chr14:24822923-24822938 chr14:24822929-24822937 chr14:24822924-24822936 chr14:24822924-24822936 chr14:24822923-24822937 chr14:24822922-24822937 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822923-24822938 chr14:24822923-24822937 chr14:24822923-24822936 chr14:24822924-24822937 chr14:24822923-24822936 chr14:24822921-24822939 chr14:24822923-24822936
6	FOSL2	chr14:24822743-24823196	HepG2	liver:	n/a	chr14:24822991-24822998 chr14:24822968-24822975 chr14:24822968-24822976 chr14:24822968-24822976
7	HNF4G	chr14:24822754-24823194	HepG2	liver:	n/a	chr14:24822923-24822938 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822919-24822941 chr14:24822923-24822938 chr14:24823133-24823145 chr14:24822929-24822937 chr14:24822924-24822936 chr14:24822924-24822936 chr14:24822923-24822937 chr14:24823131-24823144 chr14:24822924-24822936 chr14:24822923-24822938 chr14:24822923-24822938 chr14:24822923-24822937 chr14:24822923-24822936 chr14:24822924-24822937 chr14:24823131-24823144 chr14:24822923-24822936 chr14:24822921-24822939 chr14:24822923-24822936

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
2	chr14:24809738..24812373-chr14:24821553..24823093,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-802P	TF binding region
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction

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

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

rs_ID	r²[population]
rs10129435	0.84[ASN][1000 genomes]
rs10130279	0.86[ASN][1000 genomes]
rs10141054	0.86[ASN][1000 genomes]
rs10148620	0.85[ASN][1000 genomes]
rs1109152	0.83[ASN][1000 genomes]
rs1109153	0.83[ASN][1000 genomes]
rs11621904	0.84[ASN][1000 genomes]
rs12050181	0.82[ASN][1000 genomes]
rs12431836	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12433338	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436194	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12436417	0.83[ASN][1000 genomes]
rs12881276	0.95[ASN][1000 genomes]
rs2332325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28393208	0.84[ASN][1000 genomes]
rs28457795	0.93[ASN][1000 genomes]
rs28575809	0.86[ASN][1000 genomes]
rs28637873	0.92[ASN][1000 genomes]
rs28695950	0.86[ASN][1000 genomes]
rs2877642	0.82[ASN][1000 genomes]
rs3181251	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3212242	0.90[ASN][1000 genomes]
rs3212243	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3212260	0.86[ASN][1000 genomes]
rs7148384	0.80[EUR][1000 genomes]
rs8014112	0.95[ASN][1000 genomes]
rs882726	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24816600-24823000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:24818600-24824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:24820400-24824000	Enhancers	Osteobl	bone
4	chr14:24820600-24823400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:24820600-24824800	Enhancers	NHDF-Ad	bronchial
6	chr14:24821000-24823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:24821200-24823000	Weak transcription	Liver	Liver
8	chr14:24821200-24823000	Weak transcription	HMEC	breast
9	chr14:24821200-24823000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:24821200-24823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:24821200-24824000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:24821200-24824600	Weak transcription	Esophagus	oesophagus
13	chr14:24821200-24829200	Weak transcription	Placenta	Placenta
14	chr14:24821600-24823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:24821600-24823000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:24822200-24824000	Enhancers	Fetal Intestine Large	intestine
17	chr14:24822400-24824600	Enhancers	Fetal Intestine Small	intestine
18	chr14:24822800-24823200	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:24822800-24823400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:24822800-24823400	Enhancers	HepG2	liver
21	chr14:24822800-24823800	Enhancers	A549	lung
22	chr14:24822800-24823800	Enhancers	NHLF	lung
23	chr14:24822800-24824000	Enhancers	Hela-S3	cervix
24	chr14:24822800-24824600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:24822800-24824800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:24822800-24824800	Enhancers	Stomach Mucosa	stomach

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