Variant report

Variant	rs12315983
Chromosome Location	chr12:105375660-105375661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105372994..105375958-chr12:105380772..105382455,2	K562	blood:
2	chr12:105374222..105376739-chr12:105379905..105381631,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10160991	0.84[ASN][1000 genomes]
rs10161522	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10507186	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10507187	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10507188	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11112218	1.00[CEU][hapmap]
rs11112276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112279	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112283	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112303	0.91[EUR][1000 genomes]
rs11112307	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112346	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs11503466	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296144	0.97[EUR][1000 genomes]
rs12299385	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12299936	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12300005	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12300010	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301432	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12301850	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12306443	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306848	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310790	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313077	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12314995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12315975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316001	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12319632	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320024	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320195	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12320880	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321224	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321226	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321381	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17036439	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17036463	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036494	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036505	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036509	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036534	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036542	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036549	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17036558	0.91[EUR][1000 genomes]
rs17041531	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs35879768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812795	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3935722	0.94[EUR][1000 genomes]
rs4077312	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4267155	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4357778	0.94[EUR][1000 genomes]
rs4375513	1.00[CEU][hapmap]
rs4393405	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4451800	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553438	1.00[CEU][hapmap]
rs58005679	0.94[EUR][1000 genomes]
rs58447363	0.94[EUR][1000 genomes]
rs58483223	0.91[EUR][1000 genomes]
rs60057011	0.85[EUR][1000 genomes]
rs60096703	0.91[EUR][1000 genomes]
rs60310033	0.85[EUR][1000 genomes]
rs60809012	0.85[EUR][1000 genomes]
rs60956548	0.94[EUR][1000 genomes]
rs61638859	0.91[EUR][1000 genomes]
rs7131977	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7299019	1.00[CEU][hapmap]
rs73387265	0.91[EUR][1000 genomes]
rs7964906	0.99[ASN][1000 genomes]
rs7970504	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9738733	0.91[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv983361	chr12:105367672-105376203	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105375200-105379200	Weak transcription	Primary B cells from peripheral blood	blood

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