Variant report

Variant	rs7130759
Chromosome Location	chr11:105952534-105952535
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	EBF1	chr11:105952492-105952601	GM12878	blood:	n/a	chr11:105952568-105952579

Variant related genes	Relation type
KBTBD3	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10895899	0.95[ASN][1000 genomes]
rs10895904	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11226915	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11226922	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11226931	0.81[ASN][1000 genomes]
rs1939798	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1939799	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1940772	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2155340	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186731	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237618	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4440991	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4565867	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4754141	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7131047	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9943677	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7130759	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105953200	Weak transcription	Gastric	stomach
2	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:105949200-105952800	Weak transcription	Left Ventricle	heart
4	chr11:105949200-105956800	Weak transcription	Aorta	Aorta
5	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:105949200-105969800	Weak transcription	Lung	lung
9	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
10	chr11:105949400-105953000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:105949400-105953600	Enhancers	Fetal Heart	heart
12	chr11:105949800-105953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:105949800-105953000	Weak transcription	HSMMtube	muscle
14	chr11:105949800-105953200	Weak transcription	Right Ventricle	heart
15	chr11:105949800-105956800	Weak transcription	Pancreas	Pancrea
16	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
18	chr11:105950000-105953200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:105950000-105953200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:105950000-105953600	Genic enhancers	Primary T cells from cord blood	blood
21	chr11:105950000-105953600	Genic enhancers	HepG2	liver
22	chr11:105950200-105953400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:105950200-105953400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
24	chr11:105950200-105953400	Strong transcription	Placenta	Placenta
25	chr11:105950200-105953600	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr11:105950200-105953800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:105950200-105954000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:105950200-105956400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:105950400-105952600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:105950400-105952800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:105950400-105952800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:105950400-105953600	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:105950400-105953800	Strong transcription	Osteobl	bone
34	chr11:105950400-105954200	Strong transcription	NH-A	brain
35	chr11:105950400-105954600	Strong transcription	HSMM	muscle
36	chr11:105950400-105955000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:105950400-105955000	Strong transcription	NHEK	skin
38	chr11:105950400-105955200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:105950400-105955200	Weak transcription	Fetal Stomach	stomach
40	chr11:105950400-105955600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:105950400-105957200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:105950400-105958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:105950600-105952800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:105950600-105953400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:105950600-105953600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:105950600-105953600	Genic enhancers	Brain Cingulate Gyrus	brain
48	chr11:105950600-105953600	Genic enhancers	Fetal Lung	lung
49	chr11:105950600-105954000	Strong transcription	NHDF-Ad	bronchial
50	chr11:105950600-105954400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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