Variant report

Variant	rs13422706
Chromosome Location	chr2:178775634-178775635
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	chr2:178775340..178778251-chr2:178778519..178782128,3	K562	blood:
2	chr2:178773541..178777699-chr2:178778519..178781907,4	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10164920	1.00[CEU][hapmap]
rs10165089	1.00[CEU][hapmap]
rs10168170	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168605	1.00[CEU][hapmap]
rs10170290	1.00[CEU][hapmap]
rs10170607	1.00[CEU][hapmap]
rs10171247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171486	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10174066	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10174337	0.80[AFR][1000 genomes]
rs10174604	1.00[CEU][hapmap]
rs10180052	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10181377	1.00[CEU][hapmap]
rs10183144	1.00[CEU][hapmap]
rs10186239	1.00[CEU][hapmap]
rs10186953	1.00[AFR][1000 genomes];0.86[AMR][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	1.00[CEU][hapmap]
rs10190805	1.00[CEU][hapmap]
rs10191328	1.00[CEU][hapmap]
rs10193299	1.00[CEU][hapmap]
rs10194612	1.00[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	1.00[CEU][hapmap]
rs10198877	1.00[CEU][hapmap]
rs10200643	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]
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];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208501	1.00[CEU][hapmap]
rs10211057	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211341	1.00[CEU][hapmap]
rs10221783	1.00[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];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][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	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10930817	1.00[CEU][hapmap]
rs10930819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11695211	0.85[YRI][hapmap]
rs12151755	1.00[CEU][hapmap]
rs12693123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693127	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693128	1.00[CEU][hapmap]
rs12693133	1.00[CEU][hapmap]
rs12693147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12693151	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990471	0.87[CEU][hapmap]
rs12993389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994913	1.00[CEU][hapmap]
rs12995449	1.00[CEU][hapmap]
rs13002398	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003047	1.00[ASN][1000 genomes]
rs13006098	1.00[CHB][hapmap]
rs13008170	1.00[CEU][hapmap]
rs13008780	1.00[CEU][hapmap]
rs13009350	1.00[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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017473	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019623	0.95[AFR][1000 genomes];0.86[AMR][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];1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];0.86[AMR][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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383696	0.85[AFR][1000 genomes]
rs13386418	1.00[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]
rs13388890	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs13389574	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390014	1.00[YRI][hapmap]
rs13391481	0.85[AFR][1000 genomes]
rs13392577	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]
rs13393722	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395159	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397357	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs13400109	1.00[CEU][hapmap]
rs13400411	1.00[CEU][hapmap]
rs13402629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][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];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405581	0.85[AFR][1000 genomes]
rs13405585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406131	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408518	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408911	1.00[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	1.00[CEU][hapmap]
rs13411542	1.00[CEU][hapmap]
rs13411922	1.00[CEU][hapmap]
rs13411970	1.00[CEU][hapmap]
rs13413095	1.00[CEU][hapmap]
rs13413731	1.00[CEU][hapmap]
rs13415041	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13419437	1.00[CEU][hapmap]
rs13419927	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs13421772	1.00[YRI][hapmap]
rs13422276	1.00[CEU][hapmap]
rs13422367	0.85[YRI][hapmap]
rs13423344	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425873	1.00[CEU][hapmap]
rs13426862	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]
rs13427929	1.00[YRI][hapmap]
rs13428032	1.00[CEU][hapmap]
rs13429445	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]
rs17329742	1.00[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];1.00[AFR][1000 genomes];0.86[AMR][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];1.00[AFR][1000 genomes];0.86[AMR][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];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401650	1.00[CEU][hapmap]
rs17401671	1.00[CEU][hapmap]
rs17401860	1.00[CEU][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];0.95[AFR][1000 genomes];0.86[AMR][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];1.00[AFR][1000 genomes];0.86[AMR][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]
rs28621588	0.85[AFR][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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363929	1.00[AFR][1000 genomes];0.86[AMR][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	1.00[AFR][1000 genomes];0.86[AMR][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	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596457	0.98[EUR][1000 genomes]
rs34767203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34948302	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233809	1.00[AFR][1000 genomes];0.86[AMR][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	0.82[AFR][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	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952531	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861373	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4377360	1.00[CEU][hapmap]
rs4423634	1.00[CEU][hapmap]
rs6726477	1.00[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	1.00[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	1.00[CEU][hapmap]
rs9989802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
2	chr2:178774200-178775800	Enhancers	HMEC	breast
3	chr2:178774200-178776000	Enhancers	NHEK	skin
4	chr2:178774600-178775800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178774600-178776000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:178775200-178775800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:178775600-178775800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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