Variant report

Variant	rs2547999
Chromosome Location	chr5:95184652-95184653
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	ELK1	chr5:95184504-95184669	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf27-1	chr5:95184545-95185762	XLOC_004478
2	lnc-C5orf27-1	chr5:95184545-95185762	XLOC_004478
3	lnc-C5orf27-1	chr5:95184545-95185762	XLOC_004478
4	lnc-C5orf27-1	chr5:95184545-95185762	XLOC_004478

Variant related genes	Relation type
ENSG00000272021	TF binding region
C5orf27	TF binding region

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]
rs11748451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523597	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2546197	0.85[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95171800-95185800	Weak transcription	Pancreas	Pancrea
2	chr5:95177800-95192200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:95178400-95188400	Weak transcription	Stomach Mucosa	stomach
4	chr5:95179000-95186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
6	chr5:95179200-95185800	Weak transcription	Lung	lung
7	chr5:95179800-95185200	Weak transcription	Left Ventricle	heart
8	chr5:95180000-95186000	Weak transcription	Right Atrium	heart
9	chr5:95182000-95185200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:95182600-95186200	Weak transcription	NHLF	lung
11	chr5:95182800-95185800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:95182800-95185800	Weak transcription	Placenta	Placenta
13	chr5:95182800-95185800	Weak transcription	HepG2	liver
14	chr5:95182800-95186000	Enhancers	Liver	Liver
15	chr5:95182800-95191000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:95182800-95191000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:95182800-95191200	Weak transcription	Psoas Muscle	Psoas
18	chr5:95182800-95191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:95182800-95192200	Weak transcription	Esophagus	oesophagus
20	chr5:95183000-95185000	Enhancers	Fetal Heart	heart
21	chr5:95183400-95186000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:95183600-95186600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:95183600-95186800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:95183800-95185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:95184200-95185000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:95184200-95185000	Enhancers	HSMM	muscle
27	chr5:95184200-95185000	Enhancers	Osteobl	bone
28	chr5:95184200-95186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:95184400-95185000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:95184400-95185200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:95184400-95185400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:95184400-95186600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:95184600-95184800	Enhancers	NH-A	brain
34	chr5:95184600-95184800	Enhancers	NHDF-Ad	bronchial
35	chr5:95184600-95185200	Enhancers	Adipose Nuclei	Adipose

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