Variant report

Variant	rs10769981
Chromosome Location	chr11:9024460-9024461
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	CTCF	chr11:9024340-9024490	HPAF	blood vessel:	n/a	n/a
2	CEBPB	chr11:9024226-9024516	IMR90	lung:	n/a	chr11:9024365-9024376 chr11:9024251-9024264
3	MAZ	chr11:9024165-9026232	IMR90	lung:	n/a	chr11:9026108-9026121 chr11:9026109-9026120 chr11:9026110-9026119 chr11:9026110-9026119
4	ZNF263	chr11:9024405-9025735	HEK293-T-REx	kidney:	n/a	chr11:9025081-9025102 chr11:9024670-9024679 chr11:9025080-9025089
5	CEBPB	chr11:9024217-9024482	HepG2	liver:	n/a	chr11:9024365-9024376 chr11:9024251-9024264

No.	Distal block	Cell Line	Cell type
1	chr11:9022966..9025427-chr11:9154942..9157918,2	K562	blood:
2	chr11:9023701..9026254-chr11:9404770..9407613,2	K562	blood:
3	chr11:9023067..9025427-chr11:9156418..9158861,2	K562	blood:
4	chr11:8996724..8999605-chr11:9022687..9025353,2	K562	blood:
5	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
6	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
7	chr11:8704228..8705954-chr11:9023702..9025627,2	K562	blood:

Variant related genes	Relation type
ENSG00000253973	TF binding region
ENSG00000200983	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10743095	0.81[EUR][1000 genomes]
rs10769978	0.82[EUR][1000 genomes]
rs10769979	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10769980	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840157	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840158	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042152	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042154	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1109305	0.86[EUR][1000 genomes]
rs1560569	0.81[EUR][1000 genomes]
rs1980429	0.84[ASN][1000 genomes]
rs2012680	0.82[ASN][1000 genomes]
rs2012690	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2012696	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2016942	0.81[EUR][1000 genomes]
rs2568020	0.84[ASN][1000 genomes]
rs2653570	0.84[ASN][1000 genomes]
rs2653605	0.84[ASN][1000 genomes]
rs2742471	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742474	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2742480	0.84[ASN][1000 genomes]
rs4909952	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4910156	0.81[EUR][1000 genomes]
rs4910158	0.81[EUR][1000 genomes]
rs4910200	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910442	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4929922	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6486060	0.86[EUR][1000 genomes]
rs7479407	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7482838	0.84[ASN][1000 genomes]
rs7484180	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7925728	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7930026	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv3354735	chr11:9024401-9026949	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10769981	TMEM9B-AS1	cis	lung	GTEx
rs10769981	AKIP1	cis	Thyroid	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9022600-9024600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:9022800-9024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:9023000-9024600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:9023000-9024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:9023200-9024600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:9023200-9024600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr11:9023200-9024600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:9023200-9024600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:9023200-9024600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:9023200-9024600	Enhancers	HMEC	breast
11	chr11:9023200-9024600	Enhancers	HSMM	muscle
12	chr11:9023200-9024600	Enhancers	HUVEC	blood vessel
13	chr11:9023200-9024600	Enhancers	NHEK	skin
14	chr11:9023200-9025000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:9023400-9024600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:9023400-9024800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr11:9023400-9024800	Bivalent Enhancer	Fetal Thymus	thymus
18	chr11:9023600-9024600	Weak transcription	Gastric	stomach
19	chr11:9023600-9024600	Weak transcription	Spleen	Spleen
20	chr11:9023600-9024800	Weak transcription	Pancreas	Pancrea
21	chr11:9023600-9024800	Enhancers	HSMMtube	muscle
22	chr11:9023800-9024600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:9023800-9026600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:9024000-9024800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:9024200-9024600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr11:9024200-9024600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
27	chr11:9024200-9024800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:9024200-9025000	Flanking Active TSS	NHLF	lung
29	chr11:9024400-9024600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr11:9024400-9024600	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr11:9024400-9024600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:9024400-9024600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr11:9024400-9024600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:9024400-9024600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr11:9024400-9024600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr11:9024400-9024600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:9024400-9024600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:9024400-9024600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
39	chr11:9024400-9024600	Bivalent Enhancer	Brain Anterior Caudate	brain
40	chr11:9024400-9024600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr11:9024400-9024600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr11:9024400-9024600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:9024400-9024600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr11:9024400-9024600	Enhancers	Placenta	Placenta
45	chr11:9024400-9024600	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:9024400-9024800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:9024400-9024800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:9024400-9024800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:9024400-9024800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr11:9024400-9024800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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