Variant report

Variant	rs4311868
Chromosome Location	chr1:192725211-192725212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192720713..192722300-chr1:192723780..192725507,2	K562	blood:
2	chr1:192724718..192728666-chr1:192729949..192733211,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10429900	0.84[EUR][1000 genomes]
rs10737613	0.83[EUR][1000 genomes]
rs10737615	0.82[EUR][1000 genomes]
rs10737616	0.81[EUR][1000 genomes]
rs10754025	0.82[EUR][1000 genomes]
rs10754026	0.83[EUR][1000 genomes]
rs10754027	0.83[EUR][1000 genomes]
rs10754028	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10754029	0.82[EUR][1000 genomes]
rs10801143	0.84[EUR][1000 genomes]
rs10801144	0.83[EUR][1000 genomes]
rs10801145	0.83[EUR][1000 genomes]
rs10801146	0.83[EUR][1000 genomes]
rs10801147	0.82[EUR][1000 genomes]
rs10801149	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921244	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10921248	0.84[EUR][1000 genomes]
rs10921252	0.81[EUR][1000 genomes]
rs10921253	0.83[EUR][1000 genomes]
rs10921254	0.83[EUR][1000 genomes]
rs10921256	0.81[EUR][1000 genomes]
rs10921257	0.81[EUR][1000 genomes]
rs12022694	0.82[EUR][1000 genomes]
rs12027961	0.83[EUR][1000 genomes]
rs12030009	0.82[EUR][1000 genomes]
rs12058129	0.81[EUR][1000 genomes]
rs12143838	0.81[EUR][1000 genomes]
rs12145127	0.82[EUR][1000 genomes]
rs1231890	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408837	0.84[EUR][1000 genomes]
rs12409129	0.84[EUR][1000 genomes]
rs12409270	0.84[EUR][1000 genomes]
rs12410029	0.84[EUR][1000 genomes]
rs12568780	0.81[EUR][1000 genomes]
rs12724316	0.83[EUR][1000 genomes]
rs12728622	0.80[EUR][1000 genomes]
rs1418720	0.82[EUR][1000 genomes]
rs1418721	0.81[EUR][1000 genomes]
rs1592232	0.83[EUR][1000 genomes]
rs1592233	0.83[EUR][1000 genomes]
rs1933696	0.81[EUR][1000 genomes]
rs1933701	0.83[EUR][1000 genomes]
rs1933702	0.83[EUR][1000 genomes]
rs1935825	0.81[EUR][1000 genomes]
rs2066410	0.81[EUR][1000 genomes]
rs2146603	0.83[EUR][1000 genomes]
rs2146604	0.83[EUR][1000 genomes]
rs2146606	0.82[EUR][1000 genomes]
rs2369895	0.83[EUR][1000 genomes]
rs2369896	0.81[EUR][1000 genomes]
rs3767489	0.82[EUR][1000 genomes]
rs4657835	0.84[ASN][1000 genomes]
rs6428133	0.84[EUR][1000 genomes]
rs6428134	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6657274	0.81[EUR][1000 genomes]
rs720829	0.82[EUR][1000 genomes]
rs7522463	0.82[EUR][1000 genomes]
rs7525732	0.83[EUR][1000 genomes]
rs7531013	0.80[ASN][1000 genomes]
rs7534794	0.83[EUR][1000 genomes]
rs7535996	0.83[EUR][1000 genomes]
rs7537443	0.83[EUR][1000 genomes]
rs7538277	0.84[EUR][1000 genomes]
rs7545839	0.84[EUR][1000 genomes]
rs7548448	0.84[EUR][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	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
3	nsv997662	chr1:192715815-192740227	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192724600-192726400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192725200-192726400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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