Variant report

Variant	rs471656
Chromosome Location	chr11:107641340-107641341
allele	A/C
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	POLR2A	chr11:107641204-107641686	U87	brain:	n/a	n/a
2	CTCF	chr11:107641233-107642315	SK-N-SH	brain:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
3	POLR2A	chr11:107641197-107641743	U87	brain:	n/a	n/a
4	CTCF	chr11:107641340-107641490	HRE	kidney:	n/a	n/a
5	SMC3	chr11:107641222-107642346	SK-N-SH	brain:	n/a	chr11:107641922-107641936
6	CEBPB	chr11:107641274-107641972	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:107641123-107641835	U87	brain:	n/a	n/a
8	CTCF	chr11:107641280-107641430	HCM	heart:	n/a	n/a
9	POLR2A	chr11:107641197-107641770	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107447313..107447854-chr11:107640968..107641965,2	K562	blood:

Variant related genes	Relation type
ENSG00000214306	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1680250	0.81[AFR][1000 genomes]
rs478202	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs611489	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs677756	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv556378	chr11:107621538-107671626	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv556379	chr11:107627609-107671626	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv527748	chr11:107627852-107670228	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107638600-107642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:107638800-107641800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107639400-107641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:107639400-107641800	Enhancers	HSMMtube	muscle
5	chr11:107639600-107642000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:107639800-107641400	Enhancers	NH-A	brain
7	chr11:107639800-107641800	Enhancers	HSMM	muscle
8	chr11:107639800-107641800	Enhancers	NHDF-Ad	bronchial
9	chr11:107640000-107641400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:107640000-107641400	Enhancers	Osteobl	bone
11	chr11:107640000-107641800	Enhancers	GM12878-XiMat	blood
12	chr11:107640000-107642200	Enhancers	Fetal Brain Female	brain
13	chr11:107640400-107641400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:107640400-107642400	Enhancers	Fetal Brain Male	brain
15	chr11:107640600-107642000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:107641000-107641600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:107641000-107641800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:107641200-107641400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:107641200-107641600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:107641200-107641600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:107641200-107641600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:107641200-107641600	Enhancers	Fetal Muscle Leg	muscle
23	chr11:107641200-107641800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:107641200-107641800	Enhancers	Psoas Muscle	Psoas
25	chr11:107641200-107641800	Enhancers	Skeletal Muscle Male	skeletal muscle

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