Variant report

Variant	rs72743871
Chromosome Location	chr1:223355818-223355819
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	chr1:223347773..223350235-chr1:223355257..223357879,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11488549	1.00[ASN][1000 genomes]
rs1341985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163741	1.00[ASN][1000 genomes]
rs2352898	1.00[ASN][1000 genomes]
rs34088950	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970812	1.00[ASN][1000 genomes]
rs35705006	1.00[ASN][1000 genomes]
rs35802580	1.00[ASN][1000 genomes]
rs35953839	1.00[ASN][1000 genomes]
rs4393150	1.00[ASN][1000 genomes]
rs5744104	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744106	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744144	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744150	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744156	0.90[EUR][1000 genomes]
rs61838985	1.00[ASN][1000 genomes]
rs67833495	1.00[ASN][1000 genomes]
rs72743840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743847	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748469	0.86[EUR][1000 genomes]
rs72748471	0.86[EUR][1000 genomes]
rs72748472	0.86[EUR][1000 genomes]
rs72748475	0.86[EUR][1000 genomes]
rs72748482	0.90[EUR][1000 genomes]
rs73113934	1.00[ASN][1000 genomes]
rs73113935	1.00[ASN][1000 genomes]
rs73113941	1.00[ASN][1000 genomes]
rs73113948	1.00[ASN][1000 genomes]
rs988243	1.00[ASN][1000 genomes]
rs988244	1.00[ASN][1000 genomes]
rs988779	1.00[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
3	chr1:223352800-223358600	Enhancers	Primary T cells from cord blood	blood
4	chr1:223353000-223362000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:223353200-223356200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:223353800-223357200	Enhancers	HMEC	breast
7	chr1:223354400-223357200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:223354400-223357600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:223355000-223356400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:223355000-223356400	Weak transcription	NHDF-Ad	bronchial
11	chr1:223355000-223356600	Weak transcription	NHEK	skin
12	chr1:223355200-223356600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:223355400-223356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:223355400-223357600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:223355600-223358000	Weak transcription	Stomach Mucosa	stomach
16	chr1:223355600-223358400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:223355600-223358600	Weak transcription	Esophagus	oesophagus

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