Variant report

Variant	rs17009524
Chromosome Location	chr4:126280301-126280302
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	chr4:126280169-126281058	SK-N-SH_RA	brain:	n/a	chr4:126280807-126280821
2	EP300	chr4:126280233-126281128	SK-N-SH_RA	brain:	n/a	chr4:126280807-126280821

Variant related genes	Relation type
ENSG00000201297	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10212833	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1509285	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs17009497	0.82[CHB][hapmap]
rs17009611	0.82[CHB][hapmap];0.92[YRI][hapmap]
rs17009625	0.82[CHB][hapmap]
rs7666354	0.82[CHB][hapmap];0.95[YRI][hapmap]
rs7688616	0.83[CHB][hapmap]
rs7690603	0.89[ASN][1000 genomes]
rs992122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994504	0.82[CHB][hapmap]

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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126265200-126281200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:126272800-126280800	Weak transcription	NHDF-Ad	bronchial
3	chr4:126274000-126281000	Weak transcription	Aorta	Aorta
4	chr4:126274000-126288800	Weak transcription	Fetal Stomach	stomach
5	chr4:126274000-126289000	Weak transcription	Fetal Brain Male	brain
6	chr4:126274200-126281000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:126274200-126289400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:126276600-126282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:126276800-126289800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:126277400-126280800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:126277400-126288800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:126277600-126281200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:126278200-126281800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:126278600-126281800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:126279000-126281000	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:126279200-126281200	Weak transcription	Brain Substantia Nigra	brain
17	chr4:126279600-126281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:126279800-126281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:126279800-126282000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:126279800-126282000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:126279800-126282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:126280000-126281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:126280000-126281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:126280000-126281200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr4:126280000-126282000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:126280000-126287000	Weak transcription	Fetal Lung	lung
27	chr4:126280000-126288600	Weak transcription	Fetal Kidney	kidney
28	chr4:126280200-126281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:126280200-126282000	Enhancers	HUES6 Cell Line	embryonic stem cell

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