Variant report

Variant	rs58616646
Chromosome Location	chr18:29170730-29170731
allele	C/T
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	MAFF	chr18:29170481-29171573	K562	blood:	n/a	chr18:29171245-29171259 chr18:29171239-29171257

Variant related genes	Relation type
TTR	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10438932	0.81[EUR][1000 genomes]
rs12458967	0.93[EUR][1000 genomes]
rs13381522	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574501	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667227	0.90[EUR][1000 genomes]
rs17740912	0.97[ASN][1000 genomes]
rs17740990	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1791185	0.97[EUR][1000 genomes]
rs1791190	0.97[EUR][1000 genomes]
rs1791196	0.96[EUR][1000 genomes]
rs1791206	0.83[EUR][1000 genomes]
rs1900880	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36204272	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764477	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4799580	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4799586	0.93[EUR][1000 genomes]
rs4799587	0.93[EUR][1000 genomes]
rs57844152	0.96[EUR][1000 genomes]
rs62093480	0.81[EUR][1000 genomes]
rs62093481	0.81[EUR][1000 genomes]
rs62095231	0.81[EUR][1000 genomes]
rs73418122	0.93[EUR][1000 genomes]
rs875119	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs875120	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9797439	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29166400-29171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:29167200-29175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:29167800-29171200	Enhancers	HepG2	liver
4	chr18:29168200-29170800	Weak transcription	Fetal Intestine Small	intestine
5	chr18:29168400-29171000	Enhancers	Liver	Liver
6	chr18:29168800-29170800	Weak transcription	Fetal Intestine Large	intestine
7	chr18:29168800-29172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:29170200-29170800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr18:29170400-29171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:29170400-29171800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:29170600-29170800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr18:29170600-29171200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:29170600-29171400	Enhancers	NHEK	skin
14	chr18:29170600-29172000	Enhancers	Pancreas	Pancrea

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