Variant report

Variant	rs214102
Chromosome Location	chr11:17288298-17288299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:17288204-17288315	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17286631..17289597-chr11:17295588..17297647,2	MCF-7	breast:
2	chr11:17287872..17290107-chr11:17373411..17375142,2	K562	blood:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs105290	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10741724	0.81[ASN][1000 genomes]
rs10766381	0.89[ASN][1000 genomes]
rs10766382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832745	0.86[ASN][1000 genomes]
rs10832746	0.86[ASN][1000 genomes]
rs10832747	0.86[ASN][1000 genomes]
rs10832748	0.81[ASN][1000 genomes]
rs10832750	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024204	0.86[ASN][1000 genomes]
rs11024207	0.89[ASN][1000 genomes]
rs11024208	0.89[ASN][1000 genomes]
rs11024220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024221	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125737	0.83[ASN][1000 genomes]
rs12276859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1488933	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190046	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1979603	0.93[ASN][1000 genomes]
rs214067	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214069	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214071	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214075	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214076	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214079	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214080	0.80[ASN][1000 genomes]
rs214081	0.86[ASN][1000 genomes]
rs214082	0.86[ASN][1000 genomes]
rs214083	0.86[ASN][1000 genomes]
rs214084	0.86[ASN][1000 genomes]
rs214085	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214087	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214088	0.86[ASN][1000 genomes]
rs214092	0.86[ASN][1000 genomes]
rs214093	0.86[ASN][1000 genomes]
rs214094	0.85[ASN][1000 genomes]
rs214095	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214097	0.87[ASN][1000 genomes]
rs214099	0.85[ASN][1000 genomes]
rs214101	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214902	0.85[EUR][1000 genomes]
rs214904	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214907	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214909	0.84[ASN][1000 genomes]
rs214910	0.84[ASN][1000 genomes]
rs214913	0.82[ASN][1000 genomes]
rs214914	0.84[ASN][1000 genomes]
rs214915	0.84[ASN][1000 genomes]
rs214916	0.84[ASN][1000 genomes]
rs214918	0.84[ASN][1000 genomes]
rs214919	0.84[ASN][1000 genomes]
rs214920	0.84[ASN][1000 genomes]
rs214921	0.84[ASN][1000 genomes]
rs214922	0.84[ASN][1000 genomes]
rs214923	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214925	0.82[ASN][1000 genomes]
rs2171615	0.81[ASN][1000 genomes]
rs4508187	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509731	0.85[ASN][1000 genomes]
rs603618	0.86[ASN][1000 genomes]
rs61357262	0.83[ASN][1000 genomes]
rs618331	0.86[ASN][1000 genomes]
rs7101686	0.82[ASN][1000 genomes]
rs7108315	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118443	0.81[ASN][1000 genomes]
rs7128822	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7342262	0.93[ASN][1000 genomes]
rs7925692	0.91[ASN][1000 genomes]
rs7937176	0.91[ASN][1000 genomes]
rs7940253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949699	0.86[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
rs214102	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214102	OR7E14P	cis	Nerve Tibial	GTEx
rs214102	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17278800-17288800	Weak transcription	Placenta	Placenta
2	chr11:17285800-17288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:17285800-17289800	Weak transcription	K562	blood
4	chr11:17286000-17288800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:17286000-17289600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17286000-17289600	Weak transcription	NHEK	skin
7	chr11:17286000-17294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:17286000-17294400	Weak transcription	Hela-S3	cervix
9	chr11:17286000-17297200	Weak transcription	A549	lung
10	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:17287400-17289000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:17288000-17288400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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