Variant report

Variant	rs2653609
Chromosome Location	chr11:9002147-9002148
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	chr11:8994885..8996463-chr11:9001232..9004055,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10734638	0.84[EUR][1000 genomes]
rs1136966	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796375	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811367	0.84[EUR][1000 genomes]
rs1960181	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969627	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984775	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984790	0.86[EUR][1000 genomes]
rs2060157	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568029	0.84[EUR][1000 genomes]
rs2568035	0.85[EUR][1000 genomes]
rs2568056	0.82[EUR][1000 genomes]
rs2568078	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2653558	0.84[EUR][1000 genomes]
rs2653566	0.83[EUR][1000 genomes]
rs2653618	0.84[EUR][1000 genomes]
rs2742483	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742502	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2742549	0.82[EUR][1000 genomes]
rs2742553	0.82[EUR][1000 genomes]
rs34004082	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34152382	0.82[EUR][1000 genomes]
rs34191466	1.00[ASN][1000 genomes]
rs34371023	0.84[EUR][1000 genomes]
rs34581555	0.82[EUR][1000 genomes]
rs34769330	0.84[EUR][1000 genomes]
rs35578021	1.00[ASN][1000 genomes]
rs35580466	0.84[EUR][1000 genomes]
rs36100955	0.84[EUR][1000 genomes]
rs4061640	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910068	0.84[EUR][1000 genomes]
rs56277831	1.00[ASN][1000 genomes]
rs7108116	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7110170	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7117900	0.82[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	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941341	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv3356904	chr11:8998426-9002424	Weak transcription Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2653609	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:8987800-9005000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
11	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:8989600-9002400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:8989600-9003400	Weak transcription	Fetal Stomach	stomach
14	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:8994000-9008600	Weak transcription	K562	blood
19	chr11:8996400-9005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:8999600-9009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:9001800-9004400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:9001800-9015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:9002000-9002200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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