Variant report

Variant	rs2602407
Chromosome Location	chr16:81092746-81092747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81091735..81094640-chr16:81096464..81099185,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1035541	0.81[EUR][1000 genomes]
rs10459871	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10459872	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1048194	0.89[CEU][hapmap]
rs10514512	1.00[CEU][hapmap]
rs10514513	1.00[CEU][hapmap]
rs10514514	1.00[CEU][hapmap]
rs10514515	1.00[CEU][hapmap]
rs11150337	0.96[EUR][1000 genomes]
rs11537	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11863158	0.95[EUR][1000 genomes]
rs11865207	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11866124	0.90[CEU][hapmap]
rs12443549	1.00[CEU][hapmap]
rs12444137	1.00[CEU][hapmap]
rs12444747	0.89[CEU][hapmap]
rs12444969	0.85[EUR][1000 genomes]
rs12444974	0.90[CEU][hapmap]
rs12445303	1.00[CEU][hapmap]
rs12456	0.89[CEU][hapmap]
rs12927239	0.89[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12927828	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13185	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1414	1.00[CEU][hapmap]
rs1563072	0.90[CEU][hapmap]
rs1563075	1.00[CEU][hapmap]
rs16954505	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs16954513	0.89[CEU][hapmap]
rs16954572	1.00[CEU][hapmap]
rs16954582	1.00[CEU][hapmap]
rs2257378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2278022	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2278024	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2278025	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287995	0.88[EUR][1000 genomes]
rs2316730	0.89[CEU][hapmap]
rs2316731	0.86[CEU][hapmap]
rs2549891	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2549892	0.86[ASN][1000 genomes]
rs2549895	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2549896	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549899	0.81[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602401	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs2602402	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602404	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602431	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs2873310	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2911159	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2970076	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2970077	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs35096487	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4324141	1.00[CEU][hapmap]
rs4454990	0.89[CEU][hapmap]
rs4889225	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889229	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889230	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889233	0.90[CEU][hapmap]
rs58144189	0.85[EUR][1000 genomes]
rs6420421	0.90[CEU][hapmap]
rs7185637	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7203546	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7204040	1.00[CEU][hapmap]
rs7206814	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs754429	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8043855	1.00[CEU][hapmap]
rs804885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804895	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs804896	0.88[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs804897	0.81[EUR][1000 genomes]
rs804902	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs804903	0.88[ASN][1000 genomes]
rs804904	0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs804905	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs8052415	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8052490	1.00[CEU][hapmap]
rs8056972	1.00[CEU][hapmap]
rs8059692	0.90[CEU][hapmap]
rs8177940	1.00[CEU][hapmap]
rs8177957	1.00[CEU][hapmap]
rs8177959	1.00[CEU][hapmap]
rs889516	0.84[EUR][1000 genomes]
rs935942	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9806918	0.85[EUR][1000 genomes]
rs9923732	1.00[CEU][hapmap]
rs9925940	1.00[CEU][hapmap]
rs9925943	1.00[CEU][hapmap]
rs9926174	1.00[CEU][hapmap]
rs9929586	1.00[CEU][hapmap]
rs9933184	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv457564	chr16:81080366-81095091	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv457565	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv457566	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv457567	chr16:81080366-81095091	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv457568	chr16:81080366-81095091	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv457569	chr16:81080366-81095091	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv573346	chr16:81080366-81095091	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2602407	ATMIN	cis	Muscle Skeletal	GTEx
rs2602407	GCSH///LOC654085///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs2602407	GCSH	cis	Muscle Skeletal	GTEx
rs2602407	C16orf46	Cis_1M	lymphoblastoid	RTeQTL
rs2602407	GCSH///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs2602407	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81077000-81094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:81079400-81094400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:81079400-81109800	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:81079800-81094200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:81079800-81094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:81080400-81110200	Weak transcription	Ovary	ovary
7	chr16:81082400-81094200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:81082400-81095000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81083800-81099800	Weak transcription	Brain Angular Gyrus	brain
10	chr16:81088800-81095400	Weak transcription	Fetal Stomach	stomach
11	chr16:81090200-81097600	Weak transcription	Pancreas	Pancrea
12	chr16:81092000-81106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:81092600-81094400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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