Variant report

Variant	rs73792419
Chromosome Location	chr5:118208627-118208628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519564	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11954152	0.88[ASN][1000 genomes]
rs12109156	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12659444	0.80[AFR][1000 genomes]
rs1510970	0.86[ASN][1000 genomes]
rs1510971	0.86[ASN][1000 genomes]
rs17132677	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17144824	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17144836	0.88[ASN][1000 genomes]
rs2377127	0.85[ASN][1000 genomes]
rs34045550	0.85[ASN][1000 genomes]
rs4634381	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671162	0.85[ASN][1000 genomes]
rs56191796	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56406364	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57581390	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59241413	0.84[ASN][1000 genomes]
rs6860946	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863802	0.86[ASN][1000 genomes]
rs6874399	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880144	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6892437	0.92[ASN][1000 genomes]
rs73239055	0.84[ASN][1000 genomes]
rs73239065	0.95[EUR][1000 genomes]
rs767935	0.81[ASN][1000 genomes]
rs7734815	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7737388	0.86[ASN][1000 genomes]
rs7737716	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv882771	chr5:118170135-118230640	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882772	chr5:118173127-118230640	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv599563	chr5:118191798-118241854	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
4	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea
6	chr5:118194000-118210200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:118196000-118210800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:118196800-118210600	Weak transcription	Liver	Liver
9	chr5:118205400-118208800	Weak transcription	Gastric	stomach
10	chr5:118205800-118209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:118206000-118209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:118206400-118208800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:118206400-118211200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:118207200-118209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:118207400-118209000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:118207600-118209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:118207600-118209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:118208400-118209800	Weak transcription	Right Ventricle	heart
19	chr5:118208600-118209600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:118208600-118209800	ZNF genes & repeats	Aorta	Aorta
21	chr5:118208600-118210000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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