Variant report

Variant	rs17171729
Chromosome Location	chr7:40589537-40589538
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	EP300	chr7:40589390-40589910	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr7:40588857-40596953	SK-N-SH	brain:	n/a	chr7:40591110-40591124 chr7:40591855-40591864 chr7:40594897-40594911 chr7:40590048-40590062

Variant related genes	Relation type
ENSG00000203446	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16880239	1.00[EUR][1000 genomes]
rs17171724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171732	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171733	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171738	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171751	1.00[EUR][1000 genomes]
rs17171752	1.00[EUR][1000 genomes]
rs1859706	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2108189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40584400-40589800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:40585000-40591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:40585000-40591800	Weak transcription	Fetal Stomach	stomach
4	chr7:40585200-40591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:40585600-40590400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:40585600-40591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:40585600-40591200	Weak transcription	Fetal Kidney	kidney
8	chr7:40585800-40591000	Weak transcription	Fetal Lung	lung
9	chr7:40586600-40591800	Weak transcription	Placenta	Placenta
10	chr7:40586800-40591400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:40586800-40591400	Weak transcription	Aorta	Aorta
12	chr7:40587000-40590600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:40587000-40591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:40587000-40591000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:40587000-40591000	Weak transcription	NHDF-Ad	bronchial
16	chr7:40587000-40591000	Weak transcription	Osteobl	bone
17	chr7:40587000-40591200	Weak transcription	HMEC	breast
18	chr7:40589000-40591200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:40589400-40589800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:40589400-40590200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:40589400-40591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:40589400-40591600	Enhancers	Primary monocytes fromperipheralblood	blood

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