Variant report

Variant	rs56849855
Chromosome Location	chr19:36191019-36191020
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	CEBPB	chr19:36190852-36191189	K562	blood:	n/a	chr19:36191006-36191017
2	JUND	chr19:36190992-36191173	HepG2	liver:	n/a	n/a
3	RUNX3	chr19:36190986-36191304	GM12878	blood:	n/a	n/a
4	CEBPB	chr19:36190863-36191183	IMR90	lung:	n/a	chr19:36191006-36191017
5	CEBPB	chr19:36190885-36191167	Hela-S3	cervix:	n/a	chr19:36191006-36191017
6	IKZF1	chr19:36190962-36191263	GM12878	blood:	n/a	n/a
7	CEBPB	chr19:36190864-36191194	HepG2	liver:	n/a	chr19:36191006-36191017
8	CEBPB	chr19:36190854-36191191	A549	lung:	n/a	chr19:36191006-36191017
9	EP300	chr19:36190996-36191266	GM12878	blood:	n/a	n/a
10	RUNX3	chr19:36190915-36191332	GM12878	blood:	n/a	n/a
11	CEBPB	chr19:36190932-36191087	H1-hESC	embryonic stem cell:	n/a	chr19:36191006-36191017
12	CEBPB	chr19:36190922-36191087	HepG2	liver:	n/a	chr19:36191006-36191017

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36183210..36186350-chr19:36190384..36192650,3	K562	blood:
2	chr19:36190946..36193857-chr19:36221816..36224169,2	K562	blood:

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105663	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11546662	0.86[AMR][1000 genomes]
rs11546665	0.86[AMR][1000 genomes]
rs16970649	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17776834	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227278	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234360	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234375	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267585	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2267586	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2285420	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2871893	0.83[EUR][1000 genomes]
rs2871894	0.83[EUR][1000 genomes]
rs34562867	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817622	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3893069	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4580318	0.85[EUR][1000 genomes]
rs4992668	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57180990	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58142685	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58255615	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58496446	0.85[EUR][1000 genomes]
rs58952294	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61254015	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61351824	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61375471	0.85[EUR][1000 genomes]
rs73590543	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590544	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73590559	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590561	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590568	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590576	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590585	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590591	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590598	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73592416	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73592448	0.86[AMR][1000 genomes]
rs73599271	0.84[EUR][1000 genomes]
rs73599272	0.82[EUR][1000 genomes]
rs73599274	0.82[EUR][1000 genomes]
rs73599279	0.83[EUR][1000 genomes]
rs73599281	0.83[EUR][1000 genomes]
rs73599286	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73599289	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600880	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600881	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600885	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73600892	0.85[EUR][1000 genomes]
rs73600893	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73600899	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602803	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602804	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602806	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602823	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602827	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602832	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602833	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv961286	chr19:36187862-36199437	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv138418	chr19:36190656-36193931	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr19:36179200-36192800	Weak transcription	Right Atrium	heart
2	chr19:36183000-36193000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:36184800-36192600	Weak transcription	Placenta	Placenta
4	chr19:36185400-36192600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:36189600-36193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36190800-36191400	Enhancers	GM12878-XiMat	blood
7	chr19:36190800-36191400	Enhancers	HepG2	liver
8	chr19:36191000-36191200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:36191000-36191200	Enhancers	Pancreas	Pancrea

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