Variant report

Variant	rs57567061
Chromosome Location	chr11:108045512-108045513
allele	A/G
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	POLR2A	chr11:108045421-108045570	HepG2	liver:	n/a	n/a
2	MEF2A	chr11:108045137-108046046	GM12878	blood:	n/a	n/a
3	PAX5	chr11:108045200-108045582	GM12891	blood:	n/a	n/a
4	ZNF384	chr11:108045015-108045515	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:108045377-108045917	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:108045311-108045998	GM12878	blood:	n/a	n/a
7	PAX5	chr11:108045310-108045543	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108044148..108046642-chr11:108057882..108060353,3	K562	blood:
2	chr11:108033017..108035255-chr11:108043610..108046015,2	K562	blood:
3	chr11:108043561..108046117-chr11:108048946..108050489,2	K562	blood:

Variant related genes	Relation type
NPAT	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11821287	1.00[AMR][1000 genomes]
rs11824991	1.00[AMR][1000 genomes]
rs2227924	1.00[AMR][1000 genomes]
rs2229019	1.00[AMR][1000 genomes]
rs3212321	1.00[AMR][1000 genomes]
rs3218673	1.00[AMR][1000 genomes]
rs3218677	1.00[AMR][1000 genomes]
rs3218687	1.00[AMR][1000 genomes]
rs3218710	1.00[AMR][1000 genomes]
rs4987897	1.00[AMR][1000 genomes]
rs4987912	1.00[AMR][1000 genomes]
rs4987930	1.00[AMR][1000 genomes]
rs4987932	1.00[AMR][1000 genomes]
rs4987940	1.00[AMR][1000 genomes]
rs4987942	1.00[AMR][1000 genomes]
rs4987953	1.00[AMR][1000 genomes]
rs4987963	1.00[AMR][1000 genomes]
rs4988024	1.00[AMR][1000 genomes]
rs4988032	1.00[AMR][1000 genomes]
rs4988035	1.00[AMR][1000 genomes]
rs4988040	1.00[AMR][1000 genomes]
rs4988043	1.00[AMR][1000 genomes]
rs4988051	1.00[AMR][1000 genomes]
rs4988059	1.00[AMR][1000 genomes]
rs4988068	1.00[AMR][1000 genomes]
rs4988077	1.00[AMR][1000 genomes]
rs4988121	1.00[AMR][1000 genomes]
rs4988132	1.00[AMR][1000 genomes]
rs55760417	1.00[AMR][1000 genomes]
rs55973324	1.00[AMR][1000 genomes]
rs55982799	1.00[AMR][1000 genomes]
rs56833752	1.00[AMR][1000 genomes]
rs56964917	1.00[AMR][1000 genomes]
rs57627058	1.00[AMR][1000 genomes]
rs58765943	1.00[AMR][1000 genomes]
rs59559366	1.00[AMR][1000 genomes]
rs60358760	1.00[AMR][1000 genomes]
rs61144945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61504979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
6	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
8	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:108011800-108047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:108017000-108075000	Strong transcription	Dnd41	blood
14	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
15	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
16	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
17	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:108024600-108047600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
21	chr11:108026600-108047200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:108030000-108048800	Strong transcription	Fetal Intestine Large	intestine
27	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:108032800-108051800	Weak transcription	Gastric	stomach
29	chr11:108033400-108051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:108033400-108053200	Weak transcription	Aorta	Aorta
31	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
32	chr11:108037200-108046800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:108037200-108052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:108038400-108052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:108039800-108049000	Strong transcription	K562	blood
37	chr11:108040200-108057400	Weak transcription	Hela-S3	cervix
38	chr11:108040400-108053200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
40	chr11:108040600-108047200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:108040600-108048600	Weak transcription	HepG2	liver
42	chr11:108040600-108051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:108040600-108051800	Weak transcription	Right Ventricle	heart
44	chr11:108040600-108053000	Weak transcription	Fetal Heart	heart
45	chr11:108040600-108053400	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:108040800-108053000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
48	chr11:108041000-108046200	Weak transcription	Fetal Lung	lung
49	chr11:108041200-108054600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:108041400-108046000	Weak transcription	NHDF-Ad	bronchial

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