Variant report

Variant	rs73138348
Chromosome Location	chr5:95561462-95561463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95559323..95562073-chr5:95563803..95565354,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10066966	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10073073	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10463169	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476669	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10866766	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135447	0.95[ASN][1000 genomes]
rs11135448	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11135449	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742368	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742915	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11749674	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519062	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12523580	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12652939	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652970	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12653663	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659174	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13173638	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13183250	0.97[ASN][1000 genomes]
rs13190432	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13358858	0.97[ASN][1000 genomes]
rs1423673	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1695218	0.86[EUR][1000 genomes]
rs271917	0.88[EUR][1000 genomes]
rs271918	0.94[EUR][1000 genomes]
rs271940	0.86[EUR][1000 genomes]
rs2910933	0.88[EUR][1000 genomes]
rs2936431	0.92[EUR][1000 genomes]
rs3922469	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4267884	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4301244	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4492136	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4559022	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4569897	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4626359	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869281	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56699153	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59090200	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59238624	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61618257	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6556909	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862359	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877002	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877070	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877397	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878441	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879773	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6880865	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6883290	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895145	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895197	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895503	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895664	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73138312	0.97[ASN][1000 genomes]
rs73138313	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138318	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138324	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138336	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73138350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138358	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138366	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138380	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7447567	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7700756	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7701835	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706272	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7707839	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714065	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7725014	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7731306	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7733849	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734553	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735346	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735670	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95551400-95561600	Weak transcription	HepG2	liver
2	chr5:95556000-95561800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95557000-95561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:95557000-95561800	Weak transcription	NHDF-Ad	bronchial
5	chr5:95557000-95561800	Weak transcription	NHLF	lung
6	chr5:95557000-95561800	Weak transcription	Osteobl	bone
7	chr5:95557000-95562200	Weak transcription	NH-A	brain
8	chr5:95557000-95562400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:95557200-95561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:95557200-95562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:95557400-95561800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:95557400-95561800	Weak transcription	HMEC	breast
13	chr5:95557600-95561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:95557600-95561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:95557800-95562400	Weak transcription	NHEK	skin
16	chr5:95558200-95561600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:95561200-95562400	Enhancers	HSMM	muscle

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