Variant report

Variant	rs12119028
Chromosome Location	chr1:165888061-165888062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12060526	0.80[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs12118019	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569109	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663841	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768900	0.92[EUR][1000 genomes]
rs3790654	0.87[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3790668	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790669	0.87[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs3790670	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790674	0.95[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs4656464	0.85[ASN][1000 genomes]
rs4656465	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4656467	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474766	0.99[EUR][1000 genomes]
rs475558	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504436	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514163	0.95[CEU][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs530717	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs533929	0.99[EUR][1000 genomes]
rs537068	0.99[EUR][1000 genomes]
rs561315	0.99[EUR][1000 genomes]
rs576213	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426943	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661905	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6682285	0.82[CEU][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6687465	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7520107	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7547020	0.85[ASN][1000 genomes]
rs9787031	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv872509	chr1:165885147-165917109	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12119028	UCK2	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165879400-165894600	Weak transcription	Aorta	Aorta
3	chr1:165880000-165888400	Weak transcription	Spleen	Spleen
4	chr1:165880600-165889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:165880600-165894200	Weak transcription	Right Atrium	heart
6	chr1:165880800-165902600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:165881800-165888400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:165882200-165889200	Weak transcription	Fetal Brain Female	brain
9	chr1:165882200-165889400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:165882200-165894200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:165883600-165888400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:165883600-165896400	Weak transcription	Dnd41	blood

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