Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr18:29536555-29537217	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr18:29536725-29537347	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr18:29536744-29537368	HCT-116	colon:	n/a	n/a
4	RAD21	chr18:29536711-29537423	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr18:29536709-29537449	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr18:29536760-29536910	GM12873	blood:	n/a	n/a
7	CTCF	chr18:29536741-29537470	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:29522234..29525588-chr18:29534457..29537204,4	MCF-7	breast:
2	chr18:29531400..29532947-chr18:29534853..29537297,2	K562	blood:
3	chr18:29523716..29526205-chr18:29536614..29539662,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11659714	0.82[EUR][1000 genomes]
rs12326193	0.86[EUR][1000 genomes]
rs12607039	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12954934	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009538	0.98[ASN][1000 genomes]
rs2162378	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421178	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28639693	0.85[EUR][1000 genomes]
rs4344833	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61736627	0.84[EUR][1000 genomes]
rs62093904	0.84[EUR][1000 genomes]
rs7504605	0.98[ASN][1000 genomes]
rs7504671	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097835	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098465	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972358	0.98[ASN][1000 genomes]
rs974124	0.98[ASN][1000 genomes]
rs9949272	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9950155	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9950809	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr18:29525600-29537400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29531400-29536800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:29534400-29537400	Weak transcription	Fetal Intestine Large	intestine
4	chr18:29534800-29536800	Weak transcription	HepG2	liver
5	chr18:29534800-29537200	Weak transcription	Hela-S3	cervix
6	chr18:29535200-29537200	Weak transcription	Fetal Intestine Small	intestine
7	chr18:29536400-29537000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:29536600-29536800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:29536600-29537000	Enhancers	Liver	Liver

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