Variant report

Variant	rs7994427
Chromosome Location	chr13:48472812-48472813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12867248	0.81[EUR][1000 genomes]
rs12869557	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12873785	0.98[ASN][1000 genomes]
rs1555722	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974039	0.98[ASN][1000 genomes]
rs2104373	0.94[ASN][1000 genomes]
rs2104374	0.93[ASN][1000 genomes]
rs2296573	0.82[ASN][1000 genomes]
rs4553498	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942710	0.94[ASN][1000 genomes]
rs6561411	0.93[ASN][1000 genomes]
rs7317860	0.93[ASN][1000 genomes]
rs7323277	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334095	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334463	0.93[ASN][1000 genomes]
rs7336952	0.93[ASN][1000 genomes]
rs7337766	0.93[ASN][1000 genomes]
rs7981260	0.96[ASN][1000 genomes]
rs7986369	0.97[ASN][1000 genomes]
rs7993360	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7993810	0.97[ASN][1000 genomes]
rs7998886	0.98[ASN][1000 genomes]
rs9562779	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567940	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9567943	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9567948	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9591123	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9595813	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48457200-48478000	Weak transcription	Adipose Nuclei	Adipose
3	chr13:48461000-48478200	Weak transcription	Left Ventricle	heart
4	chr13:48463600-48474600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
6	chr13:48465200-48478200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:48468600-48485600	Weak transcription	Gastric	stomach
8	chr13:48468800-48479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:48469000-48478200	Weak transcription	Esophagus	oesophagus
11	chr13:48470400-48478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:48472000-48477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:48472000-48482200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:48472200-48473000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:48472200-48475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:48472200-48482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:48472200-48482400	Weak transcription	NHEK	skin
18	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:48472600-48475600	Weak transcription	NH-A	brain

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