Variant report

Variant	rs12499485
Chromosome Location	chr4:144174860-144174861
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	chr4:144174297..144176225-chr4:144302327..144303950,2	K562	blood:

Variant related genes	Relation type
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10000911	0.92[ASN][1000 genomes]
rs10001113	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10002867	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10002888	0.92[ASN][1000 genomes]
rs10004364	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10004598	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009906	0.92[ASN][1000 genomes]
rs10010367	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10011709	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10012434	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10015190	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10015751	0.92[ASN][1000 genomes]
rs10019249	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10026015	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028434	0.87[ASN][1000 genomes]
rs10029373	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10031363	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10033104	0.92[ASN][1000 genomes]
rs10034769	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10155434	0.92[ASN][1000 genomes]
rs1039762	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1039763	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10434185	0.92[ASN][1000 genomes]
rs10519678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857405	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11100770	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11100771	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11100772	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11100778	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11100779	0.85[ASN][1000 genomes]
rs11100780	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11100781	0.92[ASN][1000 genomes]
rs11100782	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100783	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11724872	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11725565	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11727441	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11728962	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11732484	0.92[ASN][1000 genomes]
rs11737209	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11933603	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11940580	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11943957	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11947142	0.91[ASN][1000 genomes]
rs12501994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12505142	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506120	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12640698	0.89[ASN][1000 genomes]
rs12649219	0.92[ASN][1000 genomes]
rs13102238	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13106497	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13113047	0.92[ASN][1000 genomes]
rs13114280	0.87[ASN][1000 genomes]
rs13116414	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118943	0.92[ASN][1000 genomes]
rs13119330	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13128884	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13137565	0.89[ASN][1000 genomes]
rs13138084	0.92[ASN][1000 genomes]
rs13139457	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13140643	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13151561	0.92[ASN][1000 genomes]
rs1440410	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440411	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440412	0.91[ASN][1000 genomes]
rs1440414	0.92[ASN][1000 genomes]
rs1440416	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440418	0.92[ASN][1000 genomes]
rs1440419	0.92[ASN][1000 genomes]
rs1470130	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1605581	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2010767	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012599	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2119269	0.87[ASN][1000 genomes]
rs2165301	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165302	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2323076	0.92[ASN][1000 genomes]
rs2323077	0.92[ASN][1000 genomes]
rs28470858	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28592151	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28649839	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300921	0.91[ASN][1000 genomes]
rs300924	0.91[ASN][1000 genomes]
rs300925	0.91[ASN][1000 genomes]
rs300927	0.85[ASN][1000 genomes]
rs300929	0.85[ASN][1000 genomes]
rs300934	0.92[ASN][1000 genomes]
rs300938	0.92[ASN][1000 genomes]
rs300939	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300940	0.92[ASN][1000 genomes]
rs300941	0.92[ASN][1000 genomes]
rs34168479	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34342939	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664017	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3910622	0.92[ASN][1000 genomes]
rs4131029	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132266	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4234886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234887	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285045	0.92[ASN][1000 genomes]
rs4290853	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4318600	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4323054	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4323055	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4336176	0.84[ASN][1000 genomes]
rs4407450	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413361	0.92[ASN][1000 genomes]
rs4502634	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4511955	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4513514	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4566607	0.84[ASN][1000 genomes]
rs4574353	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582112	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4626148	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4637346	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4690715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4690771	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4690774	0.84[ASN][1000 genomes]
rs4690775	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4690777	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690778	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4690779	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4690780	0.92[ASN][1000 genomes]
rs4690781	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4690783	0.84[ASN][1000 genomes]
rs534750	0.92[ASN][1000 genomes]
rs57168887	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs587254	0.92[ASN][1000 genomes]
rs62330280	0.87[ASN][1000 genomes]
rs632359	0.92[ASN][1000 genomes]
rs6537150	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537151	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6812522	0.89[ASN][1000 genomes]
rs6816223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818149	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820538	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6822299	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6826771	0.92[ASN][1000 genomes]
rs6827229	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6828369	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829621	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6832943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6833582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6837133	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6839312	0.92[ASN][1000 genomes]
rs6845478	0.92[ASN][1000 genomes]
rs6845907	0.92[ASN][1000 genomes]
rs6848475	0.92[ASN][1000 genomes]
rs6854861	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6856785	0.92[ASN][1000 genomes]
rs72719159	0.84[ASN][1000 genomes]
rs72719160	0.84[ASN][1000 genomes]
rs72719163	0.84[ASN][1000 genomes]
rs72719173	0.83[ASN][1000 genomes]
rs72719179	0.84[ASN][1000 genomes]
rs72719180	0.84[ASN][1000 genomes]
rs7435424	0.92[ASN][1000 genomes]
rs7436840	0.92[ASN][1000 genomes]
rs763918	0.87[ASN][1000 genomes]
rs7656276	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7670439	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7673827	0.92[ASN][1000 genomes]
rs7680365	0.89[ASN][1000 genomes]
rs7685075	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7685461	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687417	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692813	0.89[ASN][1000 genomes]
rs7693583	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7693817	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9308169	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9631769	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9685571	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9790396	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9790822	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs985619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992676	0.92[ASN][1000 genomes]
rs9996072	0.92[ASN][1000 genomes]
rs9998017	0.89[ASN][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv4531	chr4:144174573-144192930	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144172600-144176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:144172800-144175600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:144172800-144179800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:144172800-144184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:144173600-144175800	Weak transcription	Hela-S3	cervix
6	chr4:144173600-144184000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:144174400-144177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:144174800-144175800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:144174800-144177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:144174800-144177600	Weak transcription	HMEC	breast
11	chr4:144174800-144177600	Weak transcription	NHEK	skin

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