Variant report

Variant	rs1969627
Chromosome Location	chr11:9027032-9027033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9027002..9028615-chr11:9038847..9041783,2	K562	blood:
2	chr11:8713787..8716446-chr11:9025116..9027150,2	K562	blood:
3	chr11:9026840..9029249-chr11:9032131..9034982,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254665	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1136966	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796375	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960181	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984775	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984790	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2060157	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2568078	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2653609	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742483	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742502	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34004082	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34191466	1.00[ASN][1000 genomes]
rs35578021	1.00[ASN][1000 genomes]
rs4061640	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277831	1.00[ASN][1000 genomes]
rs7108116	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7110170	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7130454	1.00[ASN][1000 genomes]
rs71476814	1.00[ASN][1000 genomes]
rs72856032	1.00[ASN][1000 genomes]
rs7396115	1.00[ASN][1000 genomes]
rs7936201	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941341	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	esv3357823	chr11:9026347-9027351	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1969627	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9026200-9027800	Weak transcription	Lung	lung
2	chr11:9026200-9034800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9026200-9038800	Weak transcription	Right Atrium	heart
4	chr11:9026400-9037400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:9026800-9027200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:9027000-9027600	Weak transcription	Brain Cingulate Gyrus	brain

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