Variant report

Variant	rs105290
Chromosome Location	chr11:17292068-17292069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17290835..17293391-chr11:17295443..17297735,3	K562	blood:
2	chr11:17289393..17293255-chr11:17296129..17299283,5	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10766381	0.82[ASN][1000 genomes]
rs10766382	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10832750	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832752	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024207	0.82[ASN][1000 genomes]
rs11024208	0.82[ASN][1000 genomes]
rs11024220	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024221	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024223	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024229	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024231	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276859	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1488933	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs190046	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979603	0.86[ASN][1000 genomes]
rs214067	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214069	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214071	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214075	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214076	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214079	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214087	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214088	0.86[ASN][1000 genomes]
rs214092	0.89[ASN][1000 genomes]
rs214093	0.89[ASN][1000 genomes]
rs214094	0.87[ASN][1000 genomes]
rs214095	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214097	0.90[ASN][1000 genomes]
rs214099	0.87[ASN][1000 genomes]
rs214101	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214102	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214904	0.82[EUR][1000 genomes]
rs214907	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214923	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4508187	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7108315	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7108316	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7128822	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7342262	0.86[ASN][1000 genomes]
rs7925692	0.84[ASN][1000 genomes]
rs7937176	0.84[ASN][1000 genomes]
rs7940253	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs105290	OR7E14P	cis	Nerve Tibial	GTEx
rs105290	OR7E14P	cis	Esophagus Mucosa	GTEx
rs105290	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17286000-17294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:17286000-17294400	Weak transcription	Hela-S3	cervix
3	chr11:17286000-17297200	Weak transcription	A549	lung
4	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:17289200-17294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:17289200-17295400	Weak transcription	Placenta	Placenta
7	chr11:17289400-17294400	Weak transcription	Thymus	Thymus
8	chr11:17289400-17295400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:17290200-17294200	Weak transcription	NHEK	skin
10	chr11:17290400-17294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:17290400-17294400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:17290800-17294200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:17290800-17294400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:17290800-17294400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:17290800-17295400	Weak transcription	K562	blood
16	chr11:17291000-17294000	Weak transcription	Dnd41	blood
17	chr11:17291000-17294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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