Variant report

Variant	rs3813066
Chromosome Location	chr18:14976577-14976578
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	POLR2A	chr18:14976468-14977394	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000263821	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11080802	0.93[EUR][1000 genomes]
rs11665121	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16956954	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2004376	0.89[EUR][1000 genomes]
rs2005092	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2077353	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2313810	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460072	0.91[ASN][1000 genomes]
rs2460077	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2487170	0.91[ASN][1000 genomes]
rs28548720	0.85[EUR][1000 genomes]
rs28562095	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2860496	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2872415	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945660	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4624279	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4890720	0.89[EUR][1000 genomes]
rs56039970	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56233211	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56380668	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087312	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62087314	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62087315	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs699307	0.91[ASN][1000 genomes]
rs786019	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs786020	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs786023	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786024	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs786047	0.91[ASN][1000 genomes]
rs8098277	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099426	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9954543	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9955645	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv576542	chr18:14913292-14978677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33381	chr18:14929347-15052868	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv961035	chr18:14935356-14984974	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv960221	chr18:14948300-14977956	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv576543	chr18:14949001-15178340	Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv2761993	chr18:14956916-15402408	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14971800-14977800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr18:14972200-14977400	Enhancers	HUVEC	blood vessel
3	chr18:14972200-14977800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14972200-14978000	Enhancers	Osteobl	bone
5	chr18:14974400-14978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:14975000-14977000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:14976000-14976600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:14976000-14977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:14976200-14978600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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