Variant report

Variant	rs248343
Chromosome Location	chr5:95185267-95185268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
5	lnc-C5orf27-1	chr5:95185013-95185559	ENSG00000272021.1

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1047420	0.94[CHB][hapmap]
rs2161313	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs248344	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2547996	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3756704	1.00[CHB][hapmap]
rs4561	0.94[CHB][hapmap]
rs7725607	1.00[CHB][hapmap]
rs918469	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs918470	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs9314160	0.94[CHB][hapmap]
rs955688	0.93[CHB][hapmap]

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:30 , 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	chr5:95180000-95186000	Weak transcription	Right Atrium	heart
8	chr5:95182600-95186200	Weak transcription	NHLF	lung
9	chr5:95182800-95185800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:95182800-95185800	Weak transcription	Placenta	Placenta
11	chr5:95182800-95185800	Weak transcription	HepG2	liver
12	chr5:95182800-95186000	Enhancers	Liver	Liver
13	chr5:95182800-95191000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:95182800-95191000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:95182800-95191200	Weak transcription	Psoas Muscle	Psoas
16	chr5:95182800-95191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:95182800-95192200	Weak transcription	Esophagus	oesophagus
18	chr5:95183400-95186000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:95183600-95186600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95183600-95186800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:95184200-95186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:95184400-95185400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:95184400-95186600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:95185000-95188400	Weak transcription	Fetal Heart	heart
25	chr5:95185000-95192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:95185200-95185600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:95185200-95186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:95185200-95186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:95185200-95192400	Weak transcription	Muscle Satellite Cultured Cells	--

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