Variant report

Variant	rs7940418
Chromosome Location	chr11:17280773-17280774
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	chr11:17276902..17279261-chr11:17279604..17281506,2	K562	blood:
2	chr11:17229468..17231636-chr11:17279187..17282001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10741724	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766381	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832733	0.83[EUR][1000 genomes]
rs10832736	0.82[EUR][1000 genomes]
rs10832739	0.87[EUR][1000 genomes]
rs10832743	0.89[EUR][1000 genomes]
rs10832745	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832746	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832747	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832748	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024158	0.87[EUR][1000 genomes]
rs11024159	0.87[EUR][1000 genomes]
rs11024163	0.87[EUR][1000 genomes]
rs11024204	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024207	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024208	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024227	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1125737	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11821773	0.82[EUR][1000 genomes]
rs12280930	0.85[EUR][1000 genomes]
rs12286505	0.87[EUR][1000 genomes]
rs1236309	0.86[EUR][1000 genomes]
rs12804000	0.88[EUR][1000 genomes]
rs1685932	0.89[EUR][1000 genomes]
rs1979603	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1989405	0.88[EUR][1000 genomes]
rs2052188	0.87[EUR][1000 genomes]
rs214900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214901	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214906	0.86[EUR][1000 genomes]
rs214909	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214910	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214911	0.87[EUR][1000 genomes]
rs214912	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs214913	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs214914	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs214915	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214916	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214917	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214918	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214919	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214920	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214921	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214922	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214925	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214926	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs214927	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs214935	0.87[EUR][1000 genomes]
rs214936	0.89[EUR][1000 genomes]
rs214937	0.87[EUR][1000 genomes]
rs214939	0.88[EUR][1000 genomes]
rs214940	0.88[EUR][1000 genomes]
rs2171615	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35933265	0.80[EUR][1000 genomes]
rs4509731	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511119	0.89[EUR][1000 genomes]
rs512852	0.89[EUR][1000 genomes]
rs527810	0.87[EUR][1000 genomes]
rs536628	0.89[EUR][1000 genomes]
rs545773	0.89[EUR][1000 genomes]
rs550667	0.89[EUR][1000 genomes]
rs553711	0.87[EUR][1000 genomes]
rs577207	0.88[EUR][1000 genomes]
rs589319	0.89[EUR][1000 genomes]
rs59192183	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs594034	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs598946	0.89[EUR][1000 genomes]
rs603618	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61357262	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs615358	0.84[EUR][1000 genomes]
rs618331	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61881888	0.87[EUR][1000 genomes]
rs620241	0.89[EUR][1000 genomes]
rs621246	0.89[EUR][1000 genomes]
rs635802	0.89[EUR][1000 genomes]
rs6486352	0.87[EUR][1000 genomes]
rs6486354	0.89[EUR][1000 genomes]
rs6486358	0.85[EUR][1000 genomes]
rs651513	0.88[EUR][1000 genomes]
rs656623	0.89[EUR][1000 genomes]
rs662711	0.89[EUR][1000 genomes]
rs667984	0.89[EUR][1000 genomes]
rs677540	0.89[EUR][1000 genomes]
rs680205	0.89[EUR][1000 genomes]
rs7101686	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7108316	0.84[ASN][1000 genomes]
rs7118006	0.86[EUR][1000 genomes]
rs7118443	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7123301	0.87[EUR][1000 genomes]
rs7342262	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7396382	0.87[EUR][1000 genomes]
rs7396958	0.87[EUR][1000 genomes]
rs7478986	0.82[EUR][1000 genomes]
rs7925692	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7935219	0.86[EUR][1000 genomes]
rs7937176	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940253	0.84[ASN][1000 genomes]
rs7946010	0.87[EUR][1000 genomes]
rs7949699	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7940418	OR7E14P	cis	Esophagus Mucosa	GTEx
rs7940418	OR7E14P	cis	Nerve Tibial	GTEx
rs7940418	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17278800-17281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:17278800-17288800	Weak transcription	Placenta	Placenta
3	chr11:17279000-17281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:17279000-17281000	Weak transcription	NHEK	skin
5	chr11:17279000-17281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17279000-17284600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:17279000-17284600	Weak transcription	NHLF	lung
8	chr11:17279000-17284800	Weak transcription	HMEC	breast
9	chr11:17279200-17284600	Weak transcription	Osteobl	bone
10	chr11:17279800-17284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:17279800-17285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:17280000-17285200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:17280000-17285200	Weak transcription	Hela-S3	cervix
14	chr11:17280400-17284600	Weak transcription	A549	lung
15	chr11:17280600-17281800	Enhancers	K562	blood

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