Variant report

Variant	rs12276378
Chromosome Location	chr11:34428806-34428807
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	TCF12	chr11:34428728-34429512	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr11:34428753-34429527	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000220204	TF binding region

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

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10768074	0.94[ASN][1000 genomes]
rs10836210	0.82[ASN][1000 genomes]
rs10836212	0.88[ASN][1000 genomes]
rs10836213	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10836214	0.88[ASN][1000 genomes]
rs10836219	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836221	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836226	0.94[ASN][1000 genomes]
rs10836227	0.94[ASN][1000 genomes]
rs10836228	0.94[ASN][1000 genomes]
rs10836231	0.88[ASN][1000 genomes]
rs10836232	0.87[ASN][1000 genomes]
rs10836233	0.87[ASN][1000 genomes]
rs10836235	0.87[ASN][1000 genomes]
rs11032675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11032677	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032685	0.94[ASN][1000 genomes]
rs11032686	0.94[ASN][1000 genomes]
rs11032687	0.94[ASN][1000 genomes]
rs11032688	0.94[ASN][1000 genomes]
rs11032689	0.89[ASN][1000 genomes]
rs11032690	0.94[ASN][1000 genomes]
rs11032691	0.94[ASN][1000 genomes]
rs11032692	0.94[ASN][1000 genomes]
rs11032693	0.93[ASN][1000 genomes]
rs11032694	0.93[ASN][1000 genomes]
rs11032697	0.87[ASN][1000 genomes]
rs11032701	0.87[ASN][1000 genomes]
rs11032716	0.84[ASN][1000 genomes]
rs11032717	0.82[ASN][1000 genomes]
rs11605706	0.84[ASN][1000 genomes]
rs12277763	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285367	0.94[ASN][1000 genomes]
rs12289239	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292102	0.94[ASN][1000 genomes]
rs12708346	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12786782	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12802066	0.94[ASN][1000 genomes]
rs12803540	0.84[ASN][1000 genomes]
rs1408034	0.87[ASN][1000 genomes]
rs1408036	0.86[ASN][1000 genomes]
rs1408037	0.88[ASN][1000 genomes]
rs1408038	0.94[ASN][1000 genomes]
rs1408039	0.94[ASN][1000 genomes]
rs1408040	0.94[ASN][1000 genomes]
rs17881488	0.84[ASN][1000 genomes]
rs17884666	0.86[ASN][1000 genomes]
rs17885743	0.87[ASN][1000 genomes]
rs2073059	0.87[ASN][1000 genomes]
rs2223676	0.88[ASN][1000 genomes]
rs2284364	0.85[ASN][1000 genomes]
rs34682777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758730	0.87[ASN][1000 genomes]
rs5028597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60077297	0.94[ASN][1000 genomes]
rs61447308	0.94[ASN][1000 genomes]
rs6484720	0.88[ASN][1000 genomes]
rs6484721	0.88[ASN][1000 genomes]
rs7111687	0.90[ASN][1000 genomes]
rs7111765	0.93[ASN][1000 genomes]
rs7111903	0.90[ASN][1000 genomes]
rs7115206	0.90[ASN][1000 genomes]
rs7117540	0.88[ASN][1000 genomes]
rs7127109	0.88[ASN][1000 genomes]
rs7127314	0.88[ASN][1000 genomes]
rs7127560	0.88[ASN][1000 genomes]
rs7128380	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7131159	0.88[ASN][1000 genomes]
rs7131473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928156	0.88[ASN][1000 genomes]
rs7928368	0.88[ASN][1000 genomes]
rs7928635	0.88[ASN][1000 genomes]
rs7929333	0.94[ASN][1000 genomes]
rs7929460	0.89[ASN][1000 genomes]
rs7929574	0.94[ASN][1000 genomes]
rs7929899	0.94[ASN][1000 genomes]
rs7929931	0.94[ASN][1000 genomes]
rs7929952	0.94[ASN][1000 genomes]
rs7930070	0.94[ASN][1000 genomes]
rs7944397	0.88[ASN][1000 genomes]
rs7947841	0.85[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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34424800-34431000	Enhancers	Liver	Liver
2	chr11:34425600-34435400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:34427200-34430200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:34427400-34430200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:34427400-34432400	Weak transcription	Hela-S3	cervix
6	chr11:34427600-34434400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:34428200-34429400	Enhancers	Brain Cingulate Gyrus	brain
8	chr11:34428200-34430200	Enhancers	HepG2	liver
9	chr11:34428400-34429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:34428400-34429800	Enhancers	Brain Substantia Nigra	brain
11	chr11:34428600-34429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:34428600-34429400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:34428600-34429400	Enhancers	NHEK	skin
14	chr11:34428800-34429200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:34428800-34429200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:34428800-34429200	Enhancers	HMEC	breast
17	chr11:34428800-34429400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:34428800-34429400	Enhancers	Stomach Mucosa	stomach

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