Variant report

Variant	rs269536
Chromosome Location	chr5:114728388-114728389
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	TCF12	chr5:114728137-114728800	SK-N-SH	brain:	n/a	n/a
2	CEBPB	chr5:114728365-114728517	K562	blood:	n/a	n/a
3	CEBPB	chr5:114728292-114728655	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000249026	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2004680	0.88[CHB][hapmap]
rs2605184	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2605185	0.90[CHB][hapmap]
rs269537	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752050	0.90[CHB][hapmap]
rs3752051	0.90[CHB][hapmap]
rs3752052	0.90[CHB][hapmap]
rs7713947	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114725400-114728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:114725800-114728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114725800-114729000	Weak transcription	Left Ventricle	heart
4	chr5:114725800-114729000	Weak transcription	Right Atrium	heart
5	chr5:114725800-114729000	Weak transcription	Right Ventricle	heart
6	chr5:114725800-114729000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:114726000-114728400	Weak transcription	NHLF	lung
9	chr5:114726000-114728600	Weak transcription	Fetal Lung	lung
10	chr5:114726200-114729600	Weak transcription	Gastric	stomach
11	chr5:114727600-114730000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:114727800-114729200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:114727800-114729200	Weak transcription	Pancreas	Pancrea
14	chr5:114727800-114729400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:114728000-114728400	Enhancers	Fetal Intestine Small	intestine
16	chr5:114728200-114728400	Flanking Active TSS	NHDF-Ad	bronchial
17	chr5:114728200-114729000	Enhancers	Osteobl	bone
18	chr5:114728200-114729400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:114728200-114729400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:114728200-114730000	Enhancers	Skeletal Muscle Male	skeletal muscle

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