Variant report

Variant	rs68095140
Chromosome Location	chr5:95186490-95186491
allele	A/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	SMC3	chr5:95186234-95186533	HepG2	liver:	n/a	n/a
2	JUND	chr5:95186464-95186593	HepG2	liver:	n/a	n/a
3	MAFK	chr5:95186109-95186542	HepG2	liver:	n/a	n/a
4	FOXA1	chr5:95185955-95186508	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:95185737-95186614	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
C5orf27	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10059130	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059138	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059245	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067881	1.00[ASN][1000 genomes]
rs10074815	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10515230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57148774	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6556884	1.00[ASN][1000 genomes]
rs6556885	1.00[ASN][1000 genomes]
rs6556886	1.00[ASN][1000 genomes]
rs6556891	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67807434	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68044534	0.94[ASN][1000 genomes]
rs72785409	1.00[ASN][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:32 , 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	chr5:95178400-95188400	Weak transcription	Stomach Mucosa	stomach
3	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
4	chr5:95182800-95191000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:95182800-95191000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:95182800-95191200	Weak transcription	Psoas Muscle	Psoas
7	chr5:95182800-95191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:95182800-95192200	Weak transcription	Esophagus	oesophagus
9	chr5:95183600-95186600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95183600-95186800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:95184200-95186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:95184400-95186600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95185000-95188400	Weak transcription	Fetal Heart	heart
14	chr5:95185000-95192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:95185200-95192400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:95185600-95186800	Enhancers	Adipose Nuclei	Adipose
18	chr5:95185800-95186600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:95185800-95186600	Enhancers	Fetal Kidney	kidney
20	chr5:95185800-95186600	Enhancers	Lung	lung
21	chr5:95185800-95186800	Enhancers	Pancreas	Pancrea
22	chr5:95186000-95186600	Enhancers	Right Atrium	heart
23	chr5:95186000-95186800	Flanking Active TSS	Liver	Liver
24	chr5:95186000-95189200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:95186200-95186600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:95186200-95186600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:95186200-95186600	Enhancers	Ovary	ovary
28	chr5:95186200-95186600	Flanking Active TSS	HepG2	liver
29	chr5:95186400-95186600	Weak transcription	NHLF	lung
30	chr5:95186400-95188400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:95186400-95191000	Weak transcription	Placenta	Placenta
32	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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