Variant report

Variant	rs4844942
Chromosome Location	chr1:210222065-210222066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1040424	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1040425	0.87[ASN][1000 genomes]
rs1040426	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10489346	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779520	0.98[AMR][1000 genomes]
rs10779521	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863796	1.00[AFR][1000 genomes]
rs10863800	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10863801	0.85[AMR][1000 genomes]
rs10863806	0.98[AMR][1000 genomes]
rs10863809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863814	0.87[AMR][1000 genomes]
rs11119361	1.00[AFR][1000 genomes]
rs11119371	0.81[AMR][1000 genomes]
rs11119372	0.82[AMR][1000 genomes]
rs11119373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11119377	0.81[AMR][1000 genomes]
rs11119384	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119388	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119391	0.92[AMR][1000 genomes]
rs11119394	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119401	0.95[AMR][1000 genomes]
rs11119403	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119415	0.81[ASN][1000 genomes]
rs11119417	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119433	0.85[AMR][1000 genomes]
rs11119434	0.82[AMR][1000 genomes]
rs12057832	0.95[AMR][1000 genomes]
rs12059828	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12061641	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12064990	0.85[AMR][1000 genomes]
rs12065575	0.92[AMR][1000 genomes]
rs12066358	0.89[AMR][1000 genomes]
rs12069592	0.81[AMR][1000 genomes]
rs12073617	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12078802	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12079916	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12084199	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12085177	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12088422	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12089449	0.90[AMR][1000 genomes]
rs12092527	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12094309	0.95[AMR][1000 genomes]
rs12094626	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12354000	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12401574	0.95[AMR][1000 genomes]
rs12403002	0.92[AMR][1000 genomes]
rs12403098	0.90[AMR][1000 genomes]
rs12405519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12405601	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12406136	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12407647	0.81[AMR][1000 genomes]
rs12408689	0.90[AMR][1000 genomes]
rs12409047	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12409069	0.87[AMR][1000 genomes]
rs12409582	0.85[AMR][1000 genomes]
rs12561877	0.87[EUR][1000 genomes]
rs12565072	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565234	0.87[EUR][1000 genomes]
rs12565533	0.87[EUR][1000 genomes]
rs12566105	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12566314	0.90[AMR][1000 genomes]
rs12567184	0.87[EUR][1000 genomes]
rs12567185	0.87[EUR][1000 genomes]
rs12569033	0.87[AMR][1000 genomes]
rs12569195	0.87[EUR][1000 genomes]
rs1387932	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015564	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015565	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015566	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015667	0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130625	0.98[AMR][1000 genomes]
rs2130629	0.89[AMR][1000 genomes]
rs2151940	0.86[ASN][1000 genomes]
rs28417505	0.89[AMR][1000 genomes]
rs4144930	0.87[EUR][1000 genomes]
rs4844501	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4844502	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4844507	0.98[AMR][1000 genomes]
rs4844509	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844916	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4844923	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4844924	0.85[AMR][1000 genomes]
rs4844928	0.89[AMR][1000 genomes]
rs4844935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844936	0.92[AMR][1000 genomes]
rs4844937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844938	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4844939	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844940	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844944	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4844945	0.84[AMR][1000 genomes]
rs4844946	0.90[AMR][1000 genomes]
rs4844955	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs713114	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649911	0.87[EUR][1000 genomes]
rs72649912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649914	1.00[EUR][1000 genomes]
rs72649920	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72649921	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649922	0.87[EUR][1000 genomes]
rs72649923	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649924	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649925	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649926	0.87[EUR][1000 genomes]
rs72649928	0.87[EUR][1000 genomes]
rs72649929	0.87[EUR][1000 genomes]
rs72649930	0.87[EUR][1000 genomes]
rs72649931	0.87[EUR][1000 genomes]
rs72649932	0.87[EUR][1000 genomes]
rs72649933	0.87[EUR][1000 genomes]
rs72649934	0.87[EUR][1000 genomes]
rs72649935	0.87[EUR][1000 genomes]
rs72649936	0.87[EUR][1000 genomes]
rs72649937	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649939	0.87[EUR][1000 genomes]
rs72649940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649941	0.87[EUR][1000 genomes]
rs72649942	0.87[EUR][1000 genomes]
rs72649944	0.87[EUR][1000 genomes]
rs72649945	0.87[EUR][1000 genomes]
rs72649946	0.87[EUR][1000 genomes]
rs72649947	0.87[EUR][1000 genomes]
rs72649948	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649949	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72649950	0.87[EUR][1000 genomes]
rs72649951	0.87[EUR][1000 genomes]
rs72649953	0.87[EUR][1000 genomes]
rs72649954	0.87[EUR][1000 genomes]
rs72649955	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72649956	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649958	0.87[EUR][1000 genomes]
rs72649959	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649960	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72649964	0.84[AMR][1000 genomes]
rs72649967	0.81[AMR][1000 genomes]
rs72649968	0.81[AMR][1000 genomes]
rs760768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787400	0.90[AMR][1000 genomes]
rs9919217	0.89[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210213000-210223800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:210216800-210223000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210219200-210222400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210221000-210223600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:210221400-210243200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:210221600-210222400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:210221800-210222400	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr1:210222000-210223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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