Variant report

Variant	rs10221806
Chromosome Location	chr2:178772728-178772729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178771023..178773697-chr2:178777397..178779735,2	K562	blood:
2	chr2:178763789..178767498-chr2:178770691..178773361,4	K562	blood:
3	chr2:178765919..178767498-chr2:178770984..178773004,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10164920	0.88[CEU][hapmap]
rs10165089	0.85[CEU][hapmap]
rs10168170	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168605	0.88[CEU][hapmap]
rs10170290	0.88[CEU][hapmap]
rs10170607	0.87[CEU][hapmap]
rs10171247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171486	0.88[CEU][hapmap]
rs10174066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10174604	0.88[CEU][hapmap]
rs10180052	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10181377	0.88[CEU][hapmap]
rs10183144	0.88[CEU][hapmap]
rs10186239	0.87[CEU][hapmap]
rs10186953	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190066	0.88[CEU][hapmap]
rs10190805	0.88[CEU][hapmap]
rs10191328	0.88[CEU][hapmap]
rs10193299	0.87[CEU][hapmap]
rs10194612	0.88[CEU][hapmap]
rs10197020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10197329	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198681	0.88[CEU][hapmap]
rs10198877	0.87[CEU][hapmap]
rs10200643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202989	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10207459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208501	0.87[CEU][hapmap]
rs10211057	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211341	1.00[CEU][hapmap]
rs10221783	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10497477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497481	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10497483	0.88[CEU][hapmap]
rs10930817	0.88[CEU][hapmap]
rs10930819	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12151755	0.88[CEU][hapmap]
rs12693123	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693127	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693128	1.00[CEU][hapmap]
rs12693133	0.88[CEU][hapmap]
rs12693147	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12693151	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	0.87[CEU][hapmap]
rs12995449	0.88[CEU][hapmap]
rs13002398	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003047	1.00[ASN][1000 genomes]
rs13006098	1.00[CHB][hapmap]
rs13008170	0.88[CEU][hapmap]
rs13008780	0.88[CEU][hapmap]
rs13009350	0.88[CEU][hapmap]
rs13010993	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019623	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021204	1.00[CEU][hapmap];1.00[CHB][hapmap];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	0.92[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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386418	0.88[CEU][hapmap]
rs13386639	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13388218	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389574	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393722	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395159	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400109	0.88[CEU][hapmap]
rs13400411	1.00[CEU][hapmap]
rs13402629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406131	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408911	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410486	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13411527	0.88[CEU][hapmap]
rs13411542	0.88[CEU][hapmap]
rs13411922	0.87[CEU][hapmap]
rs13411970	1.00[CEU][hapmap]
rs13413095	0.86[CEU][hapmap]
rs13413731	0.88[CEU][hapmap]
rs13415041	0.96[EUR][1000 genomes]
rs13419437	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs13422276	0.88[CEU][hapmap]
rs13422706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425873	0.88[CEU][hapmap]
rs13426862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428032	0.87[CEU][hapmap]
rs13429445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358299	0.99[AFR][1000 genomes]
rs17329742	0.88[CEU][hapmap]
rs17329956	1.00[CEU][hapmap]
rs17329998	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17330012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330172	1.00[CEU][hapmap];1.00[CHB][hapmap];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401650	0.87[CEU][hapmap]
rs17401671	0.88[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]
rs17401951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402102	1.00[CEU][hapmap];1.00[CHB][hapmap];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]
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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363929	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	0.96[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	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34767203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34948302	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233809	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	0.92[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	0.96[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	0.88[CEU][hapmap]
rs4423634	0.88[CEU][hapmap]
rs6726477	0.87[CEU][hapmap]
rs6738614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];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	0.88[CEU][hapmap]
rs7575322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9288011	0.88[CEU][hapmap]
rs9989802	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	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
6	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
7	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178765800-178774200	Weak transcription	HMEC	breast
2	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:178768600-178773000	Weak transcription	Left Ventricle	heart
6	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
7	chr2:178770200-178773800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:178770600-178774600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:178771200-178774000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:178772200-178773600	Enhancers	Dnd41	blood
11	chr2:178772400-178772800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:178772400-178773000	Enhancers	Fetal Heart	heart
13	chr2:178772400-178773400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:178772400-178773800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:178772600-178772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:178772600-178773000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:178772600-178773200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:178772600-178773200	Enhancers	NHEK	skin
19	chr2:178772600-178773600	Enhancers	Fetal Thymus	thymus

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