Variant report

Variant	rs2126947
Chromosome Location	chr5:43316948-43316949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43314912..43317886-chr5:43482528..43484507,2	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10039048	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10039617	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10512825	0.83[EUR][1000 genomes]
rs10805672	0.83[EUR][1000 genomes]
rs10805673	0.81[EUR][1000 genomes]
rs10805674	0.82[EUR][1000 genomes]
rs10941621	0.83[EUR][1000 genomes]
rs10941622	0.83[EUR][1000 genomes]
rs10941623	0.83[EUR][1000 genomes]
rs10941628	0.84[EUR][1000 genomes]
rs10941630	0.81[EUR][1000 genomes]
rs11738086	0.81[EUR][1000 genomes]
rs11739009	0.85[EUR][1000 genomes]
rs11739665	0.83[EUR][1000 genomes]
rs11741246	0.84[EUR][1000 genomes]
rs11742171	0.81[EUR][1000 genomes]
rs11742712	0.85[EUR][1000 genomes]
rs11743622	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11747105	0.84[EUR][1000 genomes]
rs11747834	0.84[EUR][1000 genomes]
rs11950448	0.81[EUR][1000 genomes]
rs11951584	0.81[EUR][1000 genomes]
rs12189016	0.84[EUR][1000 genomes]
rs12189447	0.81[EUR][1000 genomes]
rs12514393	0.84[EUR][1000 genomes]
rs12514399	0.84[EUR][1000 genomes]
rs12515072	0.86[EUR][1000 genomes]
rs12516435	0.81[EUR][1000 genomes]
rs12518032	0.83[EUR][1000 genomes]
rs12520012	0.83[EUR][1000 genomes]
rs12522178	0.80[EUR][1000 genomes]
rs13187876	0.84[EUR][1000 genomes]
rs13659	0.82[EUR][1000 genomes]
rs1545753	0.82[EUR][1000 genomes]
rs1548097	0.83[EUR][1000 genomes]
rs1564196	0.81[EUR][1000 genomes]
rs1564197	0.81[EUR][1000 genomes]
rs1564198	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2126948	0.85[EUR][1000 genomes]
rs2126949	0.85[EUR][1000 genomes]
rs2169781	0.86[EUR][1000 genomes]
rs2330150	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35239179	0.83[EUR][1000 genomes]
rs3733768	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733769	0.83[EUR][1000 genomes]
rs4050485	0.81[EUR][1000 genomes]
rs4288122	0.81[EUR][1000 genomes]
rs4320264	0.81[EUR][1000 genomes]
rs4373285	0.83[EUR][1000 genomes]
rs4443425	0.85[EUR][1000 genomes]
rs4574553	0.81[EUR][1000 genomes]
rs4591755	0.84[EUR][1000 genomes]
rs4866737	0.85[EUR][1000 genomes]
rs4866738	0.85[EUR][1000 genomes]
rs4866741	0.83[EUR][1000 genomes]
rs4866813	0.83[EUR][1000 genomes]
rs4866820	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4866821	0.81[EUR][1000 genomes]
rs4866822	0.81[EUR][1000 genomes]
rs4866824	0.81[EUR][1000 genomes]
rs4866825	0.80[EUR][1000 genomes]
rs4866826	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55634155	0.85[EUR][1000 genomes]
rs55759722	0.80[EUR][1000 genomes]
rs55794239	0.82[EUR][1000 genomes]
rs55992392	0.82[EUR][1000 genomes]
rs56071328	0.81[EUR][1000 genomes]
rs56114604	0.83[EUR][1000 genomes]
rs56185290	0.81[EUR][1000 genomes]
rs56206275	0.81[EUR][1000 genomes]
rs57066570	0.80[EUR][1000 genomes]
rs57401732	0.85[EUR][1000 genomes]
rs58358642	0.80[EUR][1000 genomes]
rs58679159	0.85[EUR][1000 genomes]
rs58966636	0.80[EUR][1000 genomes]
rs59078439	0.83[EUR][1000 genomes]
rs59625262	0.80[EUR][1000 genomes]
rs59814709	0.81[EUR][1000 genomes]
rs60445501	0.85[EUR][1000 genomes]
rs6451684	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66691321	0.83[EUR][1000 genomes]
rs66914803	0.85[EUR][1000 genomes]
rs67497876	0.84[EUR][1000 genomes]
rs67651757	0.84[EUR][1000 genomes]
rs67817333	0.84[EUR][1000 genomes]
rs6814	0.82[EUR][1000 genomes]
rs6863246	0.81[EUR][1000 genomes]
rs6863360	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6887351	0.81[EUR][1000 genomes]
rs6895805	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6898398	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7445066	0.85[EUR][1000 genomes]
rs7701391	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7704588	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7708779	0.81[EUR][1000 genomes]
rs7714919	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7716091	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7720165	0.83[EUR][1000 genomes]
rs7722781	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9292871	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292874	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790987	0.83[EUR][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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv3360596	chr5:43315646-43336665	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2126947	NNT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43314200-43317000	Enhancers	HMEC	breast
2	chr5:43314400-43319200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:43315600-43319600	Weak transcription	K562	blood
4	chr5:43316200-43317200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:43316600-43317000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:43316800-43317000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:43316800-43317000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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