Variant report

Variant	rs2162643
Chromosome Location	chr12:49554840-49554841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49550067..49551748-chr12:49554689..49556929,2	K562	blood:
2	chr12:49532190..49534352-chr12:49552912..49555753,2	K562	blood:
3	chr12:49554137..49556960-chr12:49591128..49592792,2	K562	blood:
4	chr12:49554383..49558017-chr12:49560608..49563086,4	K562	blood:
5	chr12:49453466..49455877-chr12:49554274..49557266,2	K562	blood:
6	chr12:49554159..49557154-chr12:49656720..49660645,6	K562	blood:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1039225	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1056875	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10783307	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783308	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875922	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875924	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875925	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875927	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875928	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875929	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10875930	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875931	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168867	0.80[EUR][1000 genomes]
rs11168874	0.86[EUR][1000 genomes]
rs11168882	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168883	0.82[EUR][1000 genomes]
rs11168884	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168885	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168888	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168890	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168894	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168895	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168901	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168902	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11168903	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168904	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168909	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168910	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11837207	0.82[EUR][1000 genomes]
rs12227296	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12227610	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12227770	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12229524	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229529	0.85[EUR][1000 genomes]
rs12306494	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12318740	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12579015	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1476137	0.87[EUR][1000 genomes]
rs1476138	0.86[EUR][1000 genomes]
rs1874908	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1991427	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1991428	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016107	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2114845	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2114846	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2162644	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241727	0.85[EUR][1000 genomes]
rs2334930	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2334931	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2753	0.85[EUR][1000 genomes]
rs2878287	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35884657	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57853986	0.85[EUR][1000 genomes]
rs58336603	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58711211	0.88[EUR][1000 genomes]
rs6580701	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580703	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs697624	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73110168	0.86[EUR][1000 genomes]
rs7311346	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs731350	0.87[EUR][1000 genomes]
rs7953169	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7954521	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954530	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7957998	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969963	0.82[EUR][1000 genomes]
rs7969967	0.82[EUR][1000 genomes]
rs7976890	0.84[EUR][1000 genomes]
rs9325145	0.89[EUR][1000 genomes]
rs9739878	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788139	0.83[EUR][1000 genomes]
rs9788140	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
2	chr12:49552600-49556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:49552600-49556600	Weak transcription	Fetal Brain Female	brain
4	chr12:49553800-49555000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:49553800-49555400	Enhancers	K562	blood
6	chr12:49554000-49555600	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:49554000-49555800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:49554000-49557000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:49554200-49555000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49554200-49556000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:49554400-49555200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:49554600-49555000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:49554800-49555400	Enhancers	Spleen	Spleen
14	chr12:49554800-49555600	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:49554800-49555600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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