Variant report

Variant	rs1165666
Chromosome Location	chr12:104317536-104317537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104314393..104320294-chr12:104321148..104324855,10	K562	blood:
2	chr12:104313626..104315645-chr12:104317034..104319454,2	K562	blood:
3	chr12:104304220..104306668-chr12:104315880..104318249,2	K562	blood:
4	chr12:104307373..104313115-chr12:104313555..104318873,5	K562	blood:
5	chr12:104308000..104311397-chr12:104314818..104318186,4	K562	blood:

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10507172	0.88[JPT][hapmap]
rs10507173	0.88[JPT][hapmap]
rs10861124	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10861147	0.88[JPT][hapmap]
rs10861148	0.82[JPT][hapmap]
rs10861153	0.81[JPT][hapmap]
rs11111817	0.88[JPT][hapmap]
rs11111858	1.00[JPT][hapmap]
rs11111862	0.83[JPT][hapmap]
rs1165672	0.82[YRI][hapmap]
rs1165673	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165682	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1165684	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1183212	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12368121	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12368164	0.81[JPT][hapmap]
rs12825687	0.82[YRI][hapmap]
rs1866070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866073	0.97[ASN][1000 genomes]
rs2164747	0.83[JPT][hapmap]
rs2243680	0.81[YRI][hapmap]
rs2251979	0.88[JPT][hapmap]
rs2252000	0.89[JPT][hapmap]
rs2293620	0.88[JPT][hapmap]
rs2293624	0.88[JPT][hapmap]
rs2438116	0.93[JPT][hapmap]
rs2583244	0.82[YRI][hapmap]
rs2722188	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751210	0.86[JPT][hapmap]
rs3817602	0.81[JPT][hapmap]
rs3829301	0.83[JPT][hapmap]
rs4135054	0.88[JPT][hapmap]
rs4135079	0.88[JPT][hapmap]
rs4135113	0.81[JPT][hapmap]
rs4135126	0.81[JPT][hapmap]
rs6539104	0.88[JPT][hapmap]
rs7302074	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104306200-104320800	Weak transcription	Psoas Muscle	Psoas
2	chr12:104317200-104322600	Weak transcription	Aorta	Aorta
3	chr12:104317400-104322200	Weak transcription	Brain Anterior Caudate	brain

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