Variant report

Variant	rs13139975
Chromosome Location	chr4:22342761-22342762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1061576	0.99[EUR][1000 genomes]
rs10938887	0.99[EUR][1000 genomes]
rs10938889	1.00[EUR][1000 genomes]
rs10938890	1.00[EUR][1000 genomes]
rs10938891	1.00[EUR][1000 genomes]
rs10938892	0.99[EUR][1000 genomes]
rs10938893	0.99[EUR][1000 genomes]
rs11722233	0.99[EUR][1000 genomes]
rs11724496	0.99[EUR][1000 genomes]
rs11728954	1.00[EUR][1000 genomes]
rs11728998	1.00[EUR][1000 genomes]
rs11729007	0.99[EUR][1000 genomes]
rs11731357	1.00[EUR][1000 genomes]
rs11731358	1.00[EUR][1000 genomes]
rs11731999	0.90[EUR][1000 genomes]
rs11736657	0.99[EUR][1000 genomes]
rs11945871	0.99[EUR][1000 genomes]
rs11945937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108221	0.90[EUR][1000 genomes]
rs12642856	0.99[EUR][1000 genomes]
rs12645926	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647479	0.99[EUR][1000 genomes]
rs12648584	0.91[EUR][1000 genomes]
rs13114428	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13133620	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318890	0.99[EUR][1000 genomes]
rs1392598	1.00[EUR][1000 genomes]
rs1500457	0.99[EUR][1000 genomes]
rs1500460	0.99[EUR][1000 genomes]
rs1500461	0.99[EUR][1000 genomes]
rs1604141	1.00[EUR][1000 genomes]
rs1604142	1.00[EUR][1000 genomes]
rs16872568	0.98[EUR][1000 genomes]
rs1827238	1.00[EUR][1000 genomes]
rs1846733	0.98[EUR][1000 genomes]
rs1846734	0.99[EUR][1000 genomes]
rs2202025	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2270851	1.00[EUR][1000 genomes]
rs2270852	1.00[EUR][1000 genomes]
rs2270853	1.00[EUR][1000 genomes]
rs2323479	0.99[EUR][1000 genomes]
rs4235297	0.87[EUR][1000 genomes]
rs4311299	0.99[EUR][1000 genomes]
rs4452414	1.00[EUR][1000 genomes]
rs4697008	0.99[EUR][1000 genomes]
rs4697009	0.98[EUR][1000 genomes]
rs4697010	0.99[EUR][1000 genomes]
rs4697287	0.87[EUR][1000 genomes]
rs4697290	1.00[EUR][1000 genomes]
rs4697291	1.00[EUR][1000 genomes]
rs55840807	1.00[EUR][1000 genomes]
rs55986313	0.98[EUR][1000 genomes]
rs6448152	0.98[EUR][1000 genomes]
rs6448153	0.80[ASN][1000 genomes]
rs66517241	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66891779	0.98[EUR][1000 genomes]
rs67201921	0.90[EUR][1000 genomes]
rs6824528	0.98[EUR][1000 genomes]
rs6824899	1.00[EUR][1000 genomes]
rs6824974	0.98[EUR][1000 genomes]
rs6826620	1.00[EUR][1000 genomes]
rs6826942	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6829980	0.99[EUR][1000 genomes]
rs6830189	0.99[EUR][1000 genomes]
rs6852219	1.00[EUR][1000 genomes]
rs6852389	1.00[EUR][1000 genomes]
rs6852417	0.99[EUR][1000 genomes]
rs6853112	0.99[EUR][1000 genomes]
rs73245146	0.99[EUR][1000 genomes]
rs73245148	0.99[EUR][1000 genomes]
rs73245149	0.99[EUR][1000 genomes]
rs73245156	0.99[EUR][1000 genomes]
rs73245162	0.99[EUR][1000 genomes]
rs73245163	0.99[EUR][1000 genomes]
rs73245170	0.98[EUR][1000 genomes]
rs73245176	0.99[EUR][1000 genomes]
rs73245177	0.99[EUR][1000 genomes]
rs7442529	0.99[EUR][1000 genomes]
rs756299	0.99[EUR][1000 genomes]
rs756300	0.99[EUR][1000 genomes]
rs7657146	1.00[EUR][1000 genomes]
rs7663975	0.99[EUR][1000 genomes]
rs7664201	0.99[EUR][1000 genomes]
rs7664504	1.00[EUR][1000 genomes]
rs7665424	1.00[EUR][1000 genomes]
rs7674804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7685953	0.99[EUR][1000 genomes]
rs7689383	1.00[EUR][1000 genomes]
rs7698682	0.99[EUR][1000 genomes]
rs7699158	0.99[EUR][1000 genomes]
rs868276	0.99[EUR][1000 genomes]
rs883314	1.00[EUR][1000 genomes]
rs884832	0.99[EUR][1000 genomes]
rs955784	0.92[EUR][1000 genomes]
rs955785	0.94[EUR][1000 genomes]
rs955786	0.94[EUR][1000 genomes]
rs9684289	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs995843	0.99[EUR][1000 genomes]
rs9992463	0.90[EUR][1000 genomes]
rs9999625	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv428756	chr4:22239826-22406106	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22329000-22389400	Weak transcription	Pancreas	Pancrea
2	chr4:22329800-22349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:22331600-22343000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:22331600-22346200	Weak transcription	Left Ventricle	heart
5	chr4:22332200-22349800	Weak transcription	Liver	Liver
6	chr4:22336600-22385400	Weak transcription	Fetal Intestine Large	intestine
7	chr4:22341200-22351400	Weak transcription	Brain Angular Gyrus	brain
8	chr4:22341600-22343000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:22342000-22346600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:22342400-22342800	Enhancers	HMEC	breast
11	chr4:22342600-22342800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:22342600-22343000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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