Variant report

Variant	rs1228011
Chromosome Location	chr11:47929148-47929149
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	chr11:47929095-47929282	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr11:47929075-47929285	IMR90	lung:	n/a	chr11:47929239-47929252

Variant related genes	Relation type
ENSG00000254780	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11039489	1.00[AMR][1000 genomes]
rs11039492	1.00[AMR][1000 genomes]
rs11039506	1.00[AMR][1000 genomes]
rs11039507	1.00[AMR][1000 genomes]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275893	1.00[AMR][1000 genomes]
rs12279082	1.00[AMR][1000 genomes]
rs1228003	1.00[AMR][1000 genomes]
rs1228016	1.00[AMR][1000 genomes]
rs1228027	1.00[AMR][1000 genomes]
rs1228029	1.00[AMR][1000 genomes]
rs1228037	1.00[AMR][1000 genomes]
rs1228045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288995	1.00[AMR][1000 genomes]
rs12294321	1.00[AMR][1000 genomes]
rs12294477	1.00[AMR][1000 genomes]
rs1235221	0.94[AFR][1000 genomes]
rs1681606	1.00[AMR][1000 genomes]
rs1681638	1.00[AMR][1000 genomes]
rs2697809	1.00[AMR][1000 genomes]
rs2930185	1.00[AMR][1000 genomes]
rs2930187	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2950889	1.00[AMR][1000 genomes]
rs4387319	1.00[AMR][1000 genomes]
rs7102191	1.00[AMR][1000 genomes]
rs7941419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs900700	1.00[AMR][1000 genomes]
rs922959	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47922200-47930000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:47923600-47929800	Weak transcription	GM12878-XiMat	blood
3	chr11:47924000-47929400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:47925600-47943200	Enhancers	Placenta	Placenta
5	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47927800-47929200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:47927800-47929200	Weak transcription	Hela-S3	cervix
8	chr11:47927800-47935000	Weak transcription	K562	blood
9	chr11:47927800-47936600	Weak transcription	Thymus	Thymus
10	chr11:47928000-47929200	Weak transcription	HSMMtube	muscle
11	chr11:47928000-47929600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:47928000-47929600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:47928000-47929800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:47928200-47929200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:47928200-47929600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:47928200-47929600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:47928200-47929600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:47928200-47929600	Weak transcription	Lung	lung
19	chr11:47928200-47936800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:47928400-47929800	Weak transcription	HUVEC	blood vessel
21	chr11:47928600-47929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:47928600-47930200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:47928600-47930600	Enhancers	NHDF-Ad	bronchial
24	chr11:47928600-47930600	Enhancers	Osteobl	bone
25	chr11:47928800-47929400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:47928800-47929600	Enhancers	HSMM	muscle
27	chr11:47929000-47930400	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:47929000-47935600	Weak transcription	Placenta Amnion	Placenta Amnion

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