Variant report

Variant	rs73043098
Chromosome Location	chr19:38864165-38864166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr19:38864097-38866266	GM12878	blood:	n/a	n/a
2	REST	chr19:38864130-38866180	A549	lung:	n/a	chr19:38865066-38865075 chr19:38864254-38864262

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38839437..38845026-chr19:38862738..38867726,6	MCF-7	breast:
2	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
3	chr19:38809437..38811955-chr19:38862671..38865032,2	K562	blood:
4	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
5	chr19:38851019..38853857-chr19:38863435..38867110,13	MCF-7	breast:
6	chr19:38818863..38820421-chr19:38862032..38864402,2	K562	blood:
7	chr19:38704545..38706333-chr19:38863890..38866208,2	K562	blood:
8	chr19:38850348..38855103-chr19:38862504..38867180,11	K562	blood:
9	chr19:38753811..38757692-chr19:38863788..38867160,7	MCF-7	breast:
10	chr19:38806279..38807928-chr19:38863720..38866328,2	K562	blood:
11	chr19:38863925..38865445-chr7:7605772..7607416,2	MCF-7	breast:
12	chr19:38719001..38721753-chr19:38863587..38865113,2	K562	blood:
13	chr19:38747172..38749523-chr19:38863877..38866599,2	K562	blood:
14	chr19:38849999..38854779-chr19:38863669..38868606,10	K562	blood:
15	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:
16	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
17	chr19:38851531..38855576-chr19:38863499..38866575,5	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD8	TF binding region
ENSG00000164654	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000238838	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11083454	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11538289	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2302228	0.97[EUR][1000 genomes]
rs3745955	0.83[EUR][1000 genomes]
rs3745963	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3760884	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3885340	0.81[EUR][1000 genomes]
rs57753437	0.90[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61734615	0.81[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6508792	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6508793	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7245668	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7246085	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7246191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7246213	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7248540	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7248780	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7257976	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73037321	0.81[EUR][1000 genomes]
rs73037343	0.81[EUR][1000 genomes]
rs73037346	0.81[EUR][1000 genomes]
rs73041292	0.81[EUR][1000 genomes]
rs73043012	0.81[EUR][1000 genomes]
rs73043013	0.81[EUR][1000 genomes]
rs73043014	0.81[EUR][1000 genomes]
rs73043015	0.81[EUR][1000 genomes]
rs73043019	0.81[EUR][1000 genomes]
rs73043021	0.81[EUR][1000 genomes]
rs73043022	0.81[EUR][1000 genomes]
rs73043027	0.81[EUR][1000 genomes]
rs73043028	0.81[EUR][1000 genomes]
rs73043029	0.84[EUR][1000 genomes]
rs73043030	0.97[EUR][1000 genomes]
rs73043033	0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044915	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044917	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044919	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044926	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044928	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044944	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044948	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044953	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8108440	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8109713	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8112499	1.00[AMR][1000 genomes];0.97[EUR][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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38853800-38864400	Weak transcription	A549	lung
2	chr19:38861200-38865000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:38861400-38864600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:38861600-38864200	Weak transcription	K562	blood
5	chr19:38864000-38866800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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