Variant report

Variant	rs11748451
Chromosome Location	chr5:95190054-95190055
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95170143..95172301-chr5:95189008..95191242,2	K562	blood:

Variant related genes	Relation type
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11135438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11135440	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12523597	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2546197	0.85[EUR][1000 genomes]
rs2547999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7726424	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95177800-95192200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
3	chr5:95182800-95191000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:95182800-95191000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:95182800-95191200	Weak transcription	Psoas Muscle	Psoas
6	chr5:95182800-95191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:95182800-95192200	Weak transcription	Esophagus	oesophagus
8	chr5:95185000-95192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:95185200-95192400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:95186400-95191000	Weak transcription	Placenta	Placenta
12	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:95186600-95191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:95186600-95191200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:95186600-95191800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95186600-95192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:95186600-95192200	Weak transcription	Lung	lung
18	chr5:95186600-95192200	Weak transcription	Ovary	ovary
19	chr5:95186600-95192800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:95186800-95192000	Active TSS	Liver	Liver
21	chr5:95186800-95192200	Weak transcription	Adipose Nuclei	Adipose
22	chr5:95186800-95192200	Weak transcription	HepG2	liver
23	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
24	chr5:95188600-95194400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:95188800-95192200	Weak transcription	Pancreas	Pancrea
26	chr5:95188800-95192800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:95188800-95193000	Weak transcription	Stomach Mucosa	stomach
28	chr5:95189200-95190200	Enhancers	Right Atrium	heart
29	chr5:95189400-95192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:95189400-95193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:95189600-95191800	Weak transcription	Right Ventricle	heart
32	chr5:95189600-95192200	Weak transcription	Left Ventricle	heart
33	chr5:95189800-95192200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:95190000-95190200	Enhancers	Brain Cingulate Gyrus	brain

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