Variant report

Variant	rs1339593
Chromosome Location	chr1:192908263-192908264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192903012..192905456-chr1:192907583..192909832,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10754036	0.82[EUR][1000 genomes]
rs10801165	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921296	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921298	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921299	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11507871	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11507872	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12125347	0.80[AMR][1000 genomes]
rs12132131	0.82[EUR][1000 genomes]
rs12138298	0.82[EUR][1000 genomes]
rs1339591	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1615218	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1769054	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2066216	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2486496	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28461227	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35686688	0.89[AMR][1000 genomes]
rs6428143	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680068	0.81[EUR][1000 genomes]
rs6700102	0.89[AMR][1000 genomes]
rs6700111	0.89[AMR][1000 genomes]
rs6701258	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs710140	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs710141	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738564	0.82[EUR][1000 genomes]
rs72738565	0.82[EUR][1000 genomes]
rs72738576	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738577	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738582	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7512163	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7512241	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513985	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7547423	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842792	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842793	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842794	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842798	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842802	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842803	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842805	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs842812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842815	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs844528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9427824	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427825	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs946557	0.91[AMR][1000 genomes];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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192900600-192918600	Weak transcription	Psoas Muscle	Psoas
2	chr1:192902000-192920800	Weak transcription	Aorta	Aorta
3	chr1:192903400-192912600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:192905600-192908400	Weak transcription	Gastric	stomach
5	chr1:192905600-192912200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:192907200-192908600	Weak transcription	HUVEC	blood vessel
7	chr1:192907800-192909000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192908000-192908400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:192908200-192908600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:192908200-192909400	Weak transcription	Duodenum Mucosa	Duodenum

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