Variant report

Variant	rs12319632
Chromosome Location	chr12:105356541-105356542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105350549..105352894-chr12:105354821..105356979,2	K562	blood:
2	chr12:105355342..105357518-chr12:105358674..105361105,2	K562	blood:
3	chr12:105302265..105304511-chr12:105355863..105357764,2	K562	blood:
4	chr12:105354302..105359267-chr12:105378860..105381853,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10161522	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507186	0.91[EUR][1000 genomes]
rs10507187	0.91[EUR][1000 genomes]
rs10507188	0.88[EUR][1000 genomes]
rs11112276	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112277	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112279	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112283	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112303	0.91[EUR][1000 genomes]
rs11112307	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11503466	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12296144	0.97[EUR][1000 genomes]
rs12299385	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12299936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12300005	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12300010	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12301432	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301850	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12306191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12306443	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12306848	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12308952	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12310790	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12313077	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12314995	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12315975	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12315983	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12316001	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12320024	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320195	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320880	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12321224	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12321226	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12321381	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036439	0.85[EUR][1000 genomes]
rs17036463	0.91[EUR][1000 genomes]
rs17036494	0.91[EUR][1000 genomes]
rs17036505	0.91[EUR][1000 genomes]
rs17036509	0.91[EUR][1000 genomes]
rs17036534	0.91[EUR][1000 genomes]
rs17036542	0.91[EUR][1000 genomes]
rs17036549	0.91[EUR][1000 genomes]
rs17036558	0.91[EUR][1000 genomes]
rs17041531	0.94[EUR][1000 genomes]
rs35879768	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812795	0.91[EUR][1000 genomes]
rs3935722	0.94[EUR][1000 genomes]
rs4077312	0.91[EUR][1000 genomes]
rs4267155	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4268581	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4357778	0.94[EUR][1000 genomes]
rs4393405	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4451800	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
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	0.91[EUR][1000 genomes]
rs73387265	0.91[EUR][1000 genomes]
rs7964906	0.91[ASN][1000 genomes]
rs7970504	0.91[EUR][1000 genomes]
rs9738733	0.91[EUR][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	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105352800-105356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:105353200-105357400	Weak transcription	Fetal Brain Male	brain
3	chr12:105353600-105357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:105353800-105358000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:105353800-105358800	Weak transcription	GM12878-XiMat	blood
6	chr12:105354200-105356600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:105356200-105357600	Weak transcription	Fetal Brain Female	brain

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