Variant report

Variant	rs12040119
Chromosome Location	chr1:192037153-192037154
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	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
2	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10429906	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737604	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921055	0.85[ASN][1000 genomes]
rs10921056	0.84[ASN][1000 genomes]
rs10921080	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022478	0.86[ASN][1000 genomes]
rs12022579	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12024380	0.83[ASN][1000 genomes]
rs12028978	0.82[ASN][1000 genomes]
rs12029615	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12030963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031378	0.80[AMR][1000 genomes]
rs12031703	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12032256	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12040934	0.86[ASN][1000 genomes]
rs12042596	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045881	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046491	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12047006	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047650	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12049117	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12067233	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12755225	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16834026	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129792	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4129793	0.82[ASN][1000 genomes]
rs4316340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857178	0.80[AMR][1000 genomes]
rs6428084	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73057180	0.85[ASN][1000 genomes]
rs73057183	0.85[ASN][1000 genomes]
rs73057185	0.83[ASN][1000 genomes]
rs73057188	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73057191	0.85[ASN][1000 genomes]
rs73057198	0.85[ASN][1000 genomes]
rs73059235	0.85[ASN][1000 genomes]
rs7416226	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7416935	0.85[ASN][1000 genomes]
rs7417000	0.85[ASN][1000 genomes]
rs7520725	0.85[ASN][1000 genomes]
rs7535425	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9287121	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872826	chr1:191868441-192074894	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832137	chr1:191931044-192069133	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv548645	chr1:191953675-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv548646	chr1:191955405-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548647	chr1:191962527-192040576	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv872828	chr1:191975137-192074894	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv548648	chr1:192001465-192096277	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192033800-192037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:192036400-192037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:192036800-192039000	Weak transcription	Dnd41	blood
4	chr1:192037000-192037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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