Variant report

Variant	rs73605202
Chromosome Location	chr19:55847621-55847622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr19:55847507-55847870	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr19:55847457-55847807	MCF10A-Er-Src	breast:	n/a	n/a
3	SMC3	chr19:55847551-55847817	Hela-S3	cervix:	n/a	n/a
4	MYC	chr19:55847432-55847894	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr19:55847489-55847958	Hela-S3	cervix:	n/a	n/a
6	FOS	chr19:55847480-55847935	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr19:55847541-55847763	K562	blood:	n/a	n/a
8	FOS	chr19:55847478-55847945	MCF10A-Er-Src	breast:	n/a	n/a
9	RFX5	chr19:55847548-55847765	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr19:55847531-55847788	MCF10A-Er-Src	breast:	n/a	n/a
11	BHLHE40	chr19:55847534-55847874	HepG2	liver:	n/a	n/a
12	MXI1	chr19:55847547-55847809	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr19:55847534-55847898	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr19:55847460-55847819	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr19:55847514-55847871	Hela-S3	cervix:	n/a	n/a
16	MYC	chr19:55847500-55847916	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr19:55847470-55847823	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr19:55847478-55847826	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr19:55847482-55847907	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr19:55847524-55847750	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr19:55847500-55847922	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr19:55847538-55847824	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55834572..55838662-chr19:55847214..55851799,6	K562	blood:
2	chr19:55845417..55847688-chr19:55858182..55860322,2	K562	blood:
3	chr19:55847527..55853936-chr19:55895162..55898950,13	K562	blood:
4	chr19:55845491..55847724-chr19:55884578..55887231,2	MCF-7	breast:
5	chr19:55838827..55840527-chr19:55846643..55849753,3	MCF-7	breast:
6	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:
7	chr19:55845607..55849229-chr19:55849439..55851761,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267531	TF binding region
TMEM150B	TF binding region
SUV420H2	TF binding region
ENSG00000233493	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000180061	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000267531	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10416488	0.81[EUR][1000 genomes]
rs10416740	0.96[EUR][1000 genomes]
rs11879143	0.96[EUR][1000 genomes]
rs12609926	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58051372	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59262883	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59493644	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59695872	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59944279	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73605199	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73605200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607003	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607008	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607019	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73607024	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55813600-55850000	Weak transcription	Right Atrium	heart
2	chr19:55836800-55848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:55839200-55850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:55844400-55849600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr19:55844600-55849600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr19:55845400-55849600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:55845800-55848000	Weak transcription	K562	blood
8	chr19:55845800-55849800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr19:55845800-55849800	Weak transcription	A549	lung
10	chr19:55846000-55849600	Weak transcription	Stomach Mucosa	stomach
11	chr19:55846400-55849600	Weak transcription	Fetal Intestine Small	intestine
12	chr19:55846800-55848600	Enhancers	Placenta	Placenta
13	chr19:55847000-55848800	Enhancers	NHEK	skin
14	chr19:55847000-55849200	Enhancers	HMEC	breast
15	chr19:55847400-55848200	Enhancers	Hela-S3	cervix
16	chr19:55847600-55847800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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