Variant report

Variant	rs1621540
Chromosome Location	chr18:14944323-14944324
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	CTCF	chr18:14944300-14944450	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
2	CTCF	chr18:14944300-14944450	HEK293	kidney:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
3	CTCF	chr18:14944263-14944463	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
4	CTCF	chr18:14944302-14944575	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
5	CTCF	chr18:14944314-14944380	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:14944295-14944435	SK-N-SH_RA	brain:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
7	CTCF	chr18:14944200-14944350	HepG2	liver:	n/a	n/a
8	CTCF	chr18:14944269-14944466	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
9	RAD21	chr18:14944239-14944466	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392
10	RAD21	chr18:14944305-14944509	MCF-7	breast:	n/a	chr18:14944373-14944392
11	CTCF	chr18:14944252-14944456	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
12	CTCF	chr18:14944300-14944450	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
13	CTCF	chr18:14944270-14944480	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
14	CTCF	chr18:14944273-14944464	MCF-7	breast:	n/a	chr18:14944372-14944390 chr18:14944375-14944384
15	RAD21	chr18:14944273-14944538	SK-N-SH_RA	brain:	n/a	chr18:14944373-14944392

Variant related genes	Relation type
ENSG00000266554	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1713866	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713877	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976776	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813067	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs699308	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245302	0.86[EUR][1000 genomes]
rs786021	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786022	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786031	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786032	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786033	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786034	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786035	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786036	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786037	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786038	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786041	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786043	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786044	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786045	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs786046	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv437822	chr18:14938839-14947953	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv526858	chr18:14940293-14954303	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14942200-14946000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:14942600-14946800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr18:14943400-14946600	Weak transcription	Rectal Mucosa Donor 29	rectum

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