Variant report

Variant	rs1414519
Chromosome Location	chr1:221134350-221134351
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	chr1:221127384..221130183-chr1:221132251..221134433,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779417	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779418	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10863573	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11118632	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022930	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12140805	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414520	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2484703	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2484704	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2484706	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2784276	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2784279	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784280	0.90[EUR][1000 genomes]
rs2784281	0.90[EUR][1000 genomes]
rs2807832	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2807875	0.90[EUR][1000 genomes]
rs2807876	0.90[EUR][1000 genomes]
rs2807877	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2807881	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2992647	0.90[EUR][1000 genomes]
rs2992649	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2992650	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3013553	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3013554	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3013556	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3013558	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6678632	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221131200-221134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221131200-221134800	Weak transcription	NH-A	brain
3	chr1:221131400-221134800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:221131400-221134800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:221131600-221134600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221131600-221134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:221131600-221134800	Weak transcription	HSMM	muscle
8	chr1:221131600-221135200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:221132000-221134600	Weak transcription	Osteobl	bone
10	chr1:221132200-221134800	Weak transcription	NHLF	lung
11	chr1:221132400-221134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221133600-221135800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:221133800-221136200	Enhancers	NHDF-Ad	bronchial
14	chr1:221133800-221137000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:221134000-221134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:221134000-221134600	Weak transcription	K562	blood
17	chr1:221134200-221134600	Weak transcription	HSMMtube	muscle
18	chr1:221134200-221136000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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