Variant report

Variant	rs12040845
Chromosome Location	chr1:191998251-191998252
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	chr1:191987720..191989811-chr1:191996647..191998469,2	K562	blood:
2	chr1:191997940..191999953-chr1:192002375..192004362,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10754002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10801089	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10921064	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921069	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921070	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921071	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10921072	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10921077	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10921079	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11589341	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11799436	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027699	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12121382	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141491	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12402161	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12406175	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12738909	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12739091	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12744851	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12755445	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12760188	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1832705	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2999581	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2999582	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999585	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2999586	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999587	0.85[EUR][1000 genomes]
rs2999601	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3012199	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4073230	0.82[EUR][1000 genomes]
rs4271194	0.81[EUR][1000 genomes]
rs4300202	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4348703	0.80[EUR][1000 genomes]
rs4360506	0.82[EUR][1000 genomes]
rs4393139	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4399135	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4443869	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4511094	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4578197	0.82[EUR][1000 genomes]
rs4585961	0.82[EUR][1000 genomes]
rs4657772	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4657779	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4657922	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61819040	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6655932	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669977	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695560	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7349065	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7367454	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7416831	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7418526	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9427553	0.80[ASN][1000 genomes]
rs9427815	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9427816	0.86[ASN][1000 genomes]
rs946962	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv428279	chr1:191689246-192014612	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	nsv872826	chr1:191868441-192074894	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv470765	chr1:191924244-192017623	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv872827	chr1:191928253-192033140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv832137	chr1:191931044-192069133	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv548644	chr1:191953675-192016893	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv1847596	chr1:191953675-192017623	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv548645	chr1:191953675-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv548646	chr1:191955405-192040576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv548647	chr1:191962527-192040576	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv872828	chr1:191975137-192074894	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191998200-191999600	Enhancers	Dnd41	blood

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