Variant report

Variant	rs1374055
Chromosome Location	chr5:52549193-52549194
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	chr5:52546931..52549678-chr5:52551322..52553331,2	K562	blood:
2	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10040078	0.82[AMR][1000 genomes]
rs10040441	0.82[AMR][1000 genomes]
rs10059098	0.82[AMR][1000 genomes]
rs10076999	0.82[AMR][1000 genomes]
rs10513015	0.97[ASN][1000 genomes]
rs1374056	0.82[AMR][1000 genomes]
rs1374059	0.91[ASN][1000 genomes]
rs1500363	0.86[ASN][1000 genomes]
rs1500364	0.86[ASN][1000 genomes]
rs1500365	0.86[ASN][1000 genomes]
rs1500366	0.86[ASN][1000 genomes]
rs1500367	0.86[ASN][1000 genomes]
rs1500368	0.86[ASN][1000 genomes]
rs1500369	0.86[ASN][1000 genomes]
rs153681	0.86[ASN][1000 genomes]
rs153684	0.86[ASN][1000 genomes]
rs16881049	0.97[ASN][1000 genomes]
rs16881068	0.97[ASN][1000 genomes]
rs16881207	0.82[AMR][1000 genomes]
rs1814735	0.86[ASN][1000 genomes]
rs1846702	0.86[ASN][1000 genomes]
rs1846703	0.86[ASN][1000 genomes]
rs254474	0.86[ASN][1000 genomes]
rs254520	0.86[ASN][1000 genomes]
rs254521	0.86[ASN][1000 genomes]
rs254625	0.86[ASN][1000 genomes]
rs254632	0.86[ASN][1000 genomes]
rs254633	0.86[ASN][1000 genomes]
rs2547522	0.86[ASN][1000 genomes]
rs2561392	0.86[ASN][1000 genomes]
rs2591905	0.86[ASN][1000 genomes]
rs2591906	0.86[ASN][1000 genomes]
rs2591907	0.86[ASN][1000 genomes]
rs2650677	0.86[ASN][1000 genomes]
rs2650680	0.86[ASN][1000 genomes]
rs2650681	0.86[ASN][1000 genomes]
rs2650682	0.86[ASN][1000 genomes]
rs2650683	0.86[ASN][1000 genomes]
rs2937663	0.86[ASN][1000 genomes]
rs59109818	0.82[AMR][1000 genomes]
rs6450114	0.97[ASN][1000 genomes]
rs6450118	0.97[ASN][1000 genomes]
rs6450119	0.97[ASN][1000 genomes]
rs6869330	0.82[AMR][1000 genomes]
rs6872198	0.91[ASN][1000 genomes]
rs6879405	0.97[ASN][1000 genomes]
rs6883958	0.97[ASN][1000 genomes]
rs6892025	0.86[ASN][1000 genomes]
rs6895567	0.97[ASN][1000 genomes]
rs726904	0.86[ASN][1000 genomes]
rs726905	0.86[ASN][1000 genomes]
rs73100427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703368	0.97[ASN][1000 genomes]
rs7714660	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7723126	0.97[ASN][1000 genomes]
rs937579	0.86[ASN][1000 genomes]
rs937580	0.83[ASN][1000 genomes]
rs937582	0.80[ASN][1000 genomes]
rs9918234	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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52541800-52559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:52546200-52549200	Weak transcription	NH-A	brain
3	chr5:52546200-52549400	Weak transcription	Aorta	Aorta
4	chr5:52546400-52549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:52546600-52549200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:52546800-52549400	Weak transcription	HSMMtube	muscle
7	chr5:52548200-52554400	Enhancers	NHEK	skin
8	chr5:52548600-52549600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:52548600-52549800	Enhancers	Dnd41	blood
10	chr5:52548600-52550000	Enhancers	Thymus	Thymus
11	chr5:52548600-52550200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:52548600-52550200	Enhancers	NHDF-Ad	bronchial
13	chr5:52548600-52550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52548600-52550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:52548600-52550600	Enhancers	NHLF	lung
16	chr5:52548600-52561400	Enhancers	HMEC	breast
17	chr5:52548800-52549200	Weak transcription	A549	lung
18	chr5:52548800-52549400	Enhancers	Fetal Thymus	thymus
19	chr5:52548800-52549800	Enhancers	Hela-S3	cervix
20	chr5:52548800-52550200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:52548800-52550200	Enhancers	HSMM	muscle
22	chr5:52548800-52550200	Enhancers	Osteobl	bone
23	chr5:52548800-52551000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:52549000-52549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:52549000-52550200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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