Variant report

Variant	rs13426862
Chromosome Location	chr2:178747053-178747054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178739623..178741157-chr2:178746550..178748805,2	K562	blood:
2	chr2:178746834..178749681-chr2:178770158..178771750,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10164920	0.85[CEU][hapmap]
rs10168170	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168605	0.85[CEU][hapmap]
rs10170290	0.85[CEU][hapmap]
rs10170607	0.82[CEU][hapmap]
rs10171247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171486	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs10174066	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10174604	0.85[CEU][hapmap]
rs10180052	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10181377	0.85[CEU][hapmap]
rs10183144	0.85[CEU][hapmap]
rs10186239	0.82[CEU][hapmap]
rs10186953	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190066	0.85[CEU][hapmap]
rs10190805	0.85[CEU][hapmap]
rs10191328	0.85[CEU][hapmap]
rs10193299	0.85[CEU][hapmap]
rs10194612	0.85[CEU][hapmap]
rs10197020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10197329	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198681	0.85[CEU][hapmap]
rs10198877	0.82[CEU][hapmap]
rs10200643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10207459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208501	0.85[CEU][hapmap]
rs10211057	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211341	1.00[CEU][hapmap]
rs10221783	0.82[CEU][hapmap]
rs10221806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10497483	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs10930817	0.85[CEU][hapmap]
rs10930819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11695211	0.85[YRI][hapmap]
rs12151755	0.85[CEU][hapmap]
rs12693123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693127	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693128	1.00[CEU][hapmap]
rs12693133	0.85[CEU][hapmap]
rs12693147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12693151	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990471	0.82[CEU][hapmap]
rs12993389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994913	0.82[CEU][hapmap]
rs12995449	0.85[CEU][hapmap]
rs13002398	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003047	1.00[ASN][1000 genomes]
rs13006098	1.00[CHB][hapmap]
rs13008170	0.85[CEU][hapmap]
rs13008780	0.85[CEU][hapmap]
rs13009350	0.85[CEU][hapmap]
rs13010993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013319	1.00[ASN][1000 genomes]
rs13015148	1.00[CEU][hapmap]
rs13017026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017462	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017473	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019623	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022267	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023495	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023939	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034432	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386418	0.85[CEU][hapmap]
rs13386639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13388218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389574	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390014	1.00[YRI][hapmap]
rs13392577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393722	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395159	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397357	0.87[YRI][hapmap]
rs13400109	0.85[CEU][hapmap]
rs13400411	1.00[CEU][hapmap]
rs13402629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406131	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408518	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408911	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13411527	0.85[CEU][hapmap]
rs13411542	0.85[CEU][hapmap]
rs13411922	0.82[CEU][hapmap]
rs13411970	1.00[CEU][hapmap]
rs13413095	0.82[CEU][hapmap]
rs13413731	0.85[CEU][hapmap]
rs13415041	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13419437	1.00[CEU][hapmap]
rs13419927	1.00[YRI][hapmap]
rs13421772	1.00[YRI][hapmap]
rs13422276	0.85[CEU][hapmap]
rs13422706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425873	0.85[CEU][hapmap]
rs13427929	1.00[YRI][hapmap]
rs13428032	0.82[CEU][hapmap]
rs13429445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329742	0.85[CEU][hapmap]
rs17329956	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17329998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17330012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401650	0.82[CEU][hapmap]
rs17401671	0.85[CEU][hapmap]
rs17401860	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs17401902	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17401916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17401951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635934	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2056715	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34018298	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34081471	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34206020	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363929	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406776	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434094	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473720	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34479958	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34510795	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596457	0.98[EUR][1000 genomes]
rs34767203	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34948302	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233809	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286879	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290022	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454650	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591668	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699369	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35757742	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35797524	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924394	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952531	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861373	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4377360	0.85[CEU][hapmap]
rs4423634	0.85[CEU][hapmap]
rs6726477	0.82[CEU][hapmap]
rs6738614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71423523	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423534	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423535	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423537	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423540	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423541	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423545	1.00[ASN][1000 genomes]
rs7561059	0.85[CEU][hapmap]
rs7575322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600368	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9288011	0.85[CEU][hapmap]
rs9989802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178741600-178748000	Enhancers	Liver	Liver
3	chr2:178745200-178750000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:178747000-178747800	Weak transcription	Psoas Muscle	Psoas
6	chr2:178747000-178750000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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