Variant report

Variant	rs4569104
Chromosome Location	chr13:30573994-30573995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1122694	0.87[EUR][1000 genomes]
rs2779514	0.93[ASN][1000 genomes]
rs4363718	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4769798	0.87[EUR][1000 genomes]
rs4769799	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7325348	0.89[ASN][1000 genomes]
rs7994485	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8002871	0.82[EUR][1000 genomes]
rs846837	0.89[ASN][1000 genomes]
rs846841	0.90[ASN][1000 genomes]
rs846842	0.81[ASN][1000 genomes]
rs846844	0.84[ASN][1000 genomes]
rs9506250	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579507	0.90[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30568200-30576000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:30569200-30578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:30569400-30574800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:30569400-30576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:30573000-30574200	Weak transcription	NH-A	brain
7	chr13:30573400-30574000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr13:30573400-30574000	Enhancers	Stomach Mucosa	stomach
9	chr13:30573400-30577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:30573600-30574200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr13:30573600-30574800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:30573600-30575000	Enhancers	NHDF-Ad	bronchial
13	chr13:30573800-30574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:30573800-30574000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr13:30573800-30574000	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr13:30573800-30574000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr13:30573800-30574200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:30573800-30574200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:30573800-30574400	Enhancers	Brain Germinal Matrix	brain
20	chr13:30573800-30574400	Enhancers	HSMMtube	muscle
21	chr13:30573800-30574800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:30573800-30574800	Active TSS	Brain Cingulate Gyrus	brain
23	chr13:30573800-30574800	Active TSS	Brain Hippocampus Middle	brain

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