Variant report

Variant	rs1270747
Chromosome Location	chr1:103320253-103320254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1120519	1.00[ASN][1000 genomes]
rs12026364	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1241168	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241169	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241170	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241177	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1261689	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320506	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618201	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625969	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676489	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676509	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127273	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127286	1.00[ASN][1000 genomes]
rs1763341	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841839	1.00[ASN][1000 genomes]
rs1841840	1.00[ASN][1000 genomes]
rs1932340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975917	1.00[ASN][1000 genomes]
rs1975919	1.00[ASN][1000 genomes]
rs2045818	1.00[ASN][1000 genomes]
rs2622835	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622882	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453063	1.00[ASN][1000 genomes]
rs4908277	1.00[ASN][1000 genomes]
rs538676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682104	1.00[ASN][1000 genomes]
rs6664067	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691075	1.00[ASN][1000 genomes]
rs72683274	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683281	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72683293	1.00[ASN][1000 genomes]
rs72683297	1.00[ASN][1000 genomes]
rs974076	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3413112	chr1:103318389-103320937	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103317800-103321800	Weak transcription	NHDF-Ad	bronchial
2	chr1:103318200-103320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:103318400-103324000	Weak transcription	Osteobl	bone
4	chr1:103318400-103324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:103319200-103320600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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