Variant report

Variant	rs2088375
Chromosome Location	chr18:30159282-30159283
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	ZNF143	chr18:30159116-30159498	H1-hESC	embryonic stem cell:	n/a	n/a
2	SETDB1	chr18:30158943-30159401	U2OS	brain:	n/a	n/a
3	KAP1	chr18:30159091-30159284	HEK293	kidney:	n/a	n/a
4	CEBPB	chr18:30159138-30159403	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr18:30159084-30159428	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000263688	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1497243	0.88[EUR][1000 genomes]
rs162418	0.85[EUR][1000 genomes]
rs162419	0.85[EUR][1000 genomes]
rs162420	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162421	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162422	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648668	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1693310	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1693311	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1693312	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1693319	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1705439	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705440	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705441	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705442	0.82[EUR][1000 genomes]
rs1705443	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705444	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1705445	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1705470	0.85[EUR][1000 genomes]
rs1705477	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs189796	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2421524	0.87[ASN][1000 genomes]
rs2666805	0.90[ASN][1000 genomes]
rs330280	0.88[ASN][1000 genomes]
rs330281	0.82[EUR][1000 genomes]
rs330283	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs330284	0.88[ASN][1000 genomes]
rs330296	0.99[EUR][1000 genomes]
rs330297	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330298	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330299	0.85[EUR][1000 genomes]
rs330300	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330301	1.00[EUR][1000 genomes]
rs330302	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330303	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330304	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs330306	0.90[EUR][1000 genomes]
rs330307	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330308	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330309	0.90[EUR][1000 genomes]
rs330327	0.80[EUR][1000 genomes]
rs330328	0.91[EUR][1000 genomes]
rs4344834	0.81[ASN][1000 genomes]
rs72943518	0.81[EUR][1000 genomes]
rs8097669	0.88[ASN][1000 genomes]
rs937400	0.99[EUR][1000 genomes]
rs937401	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937402	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635884	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909524	chr18:30115418-30196804	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv909525	chr18:30115418-30215056	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv909526	chr18:30124311-30259109	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1066906	chr18:30125366-30192567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv543676	chr18:30125366-30192567	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv431976	chr18:30129553-30194102	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30157200-30165400	Weak transcription	Brain Angular Gyrus	brain

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