Variant report

Variant	rs1762557
Chromosome Location	chr19:21412948-21412949
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	chr19:21412935-21412982	H1-hESC	embryonic stem cell:	n/a	n/a
2	TRIM28	chr19:21412820-21413163	K562	blood:	n/a	n/a
3	KAP1	chr19:21412851-21413169	HEK293	kidney:	n/a	n/a
4	KAP1	chr19:21412805-21413179	K562	blood:	n/a	n/a
5	ZNF143	chr19:21412857-21413132	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr19:21412796-21413087	K562	blood:	n/a	n/a
7	CBX3	chr19:21412789-21413093	K562	blood:	n/a	n/a
8	SETDB1	chr19:21412931-21413135	U2OS	brain:	n/a	n/a
9	EP300	chr19:21412895-21412979	K562	blood:	n/a	n/a
10	POLR2A	chr19:21412800-21412949	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL36AP51	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1612863	1.00[AMR][1000 genomes]
rs1613729	1.00[AMR][1000 genomes]
rs1617506	1.00[AMR][1000 genomes]
rs1618904	1.00[AMR][1000 genomes]
rs1619077	1.00[AMR][1000 genomes]
rs1620666	1.00[AMR][1000 genomes]
rs1620856	1.00[AMR][1000 genomes]
rs1630930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1645802	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1645803	1.00[AMR][1000 genomes]
rs1645805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678817	1.00[AMR][1000 genomes]
rs1678818	1.00[AMR][1000 genomes]
rs1678819	1.00[AMR][1000 genomes]
rs1678820	1.00[AMR][1000 genomes]
rs1678821	1.00[AMR][1000 genomes]
rs1678823	1.00[AMR][1000 genomes]
rs1678824	1.00[AMR][1000 genomes]
rs1678826	1.00[AMR][1000 genomes]
rs1678827	1.00[AMR][1000 genomes]
rs1678828	1.00[AMR][1000 genomes]
rs1678829	1.00[AMR][1000 genomes]
rs1678830	1.00[AMR][1000 genomes]
rs1762551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762567	1.00[AMR][1000 genomes]
rs1762568	1.00[AMR][1000 genomes]
rs1762570	1.00[AMR][1000 genomes]
rs1762571	1.00[AMR][1000 genomes]
rs1762572	1.00[AMR][1000 genomes]
rs1762573	1.00[AMR][1000 genomes]
rs1762574	1.00[AMR][1000 genomes]
rs1762575	1.00[AMR][1000 genomes]
rs1762577	1.00[AMR][1000 genomes]
rs1762581	1.00[AMR][1000 genomes]
rs1762582	1.00[AMR][1000 genomes]
rs1762584	1.00[AMR][1000 genomes]
rs1762586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762588	1.00[AMR][1000 genomes]
rs1762589	1.00[AMR][1000 genomes]
rs1762593	1.00[AMR][1000 genomes]
rs1781843	1.00[AMR][1000 genomes]
rs1781851	1.00[AMR][1000 genomes]
rs1781852	1.00[AMR][1000 genomes]
rs1781855	1.00[AMR][1000 genomes]
rs1781858	1.00[AMR][1000 genomes]
rs1781864	1.00[AMR][1000 genomes]
rs1781866	1.00[AMR][1000 genomes]
rs1781868	1.00[AMR][1000 genomes]
rs1781869	1.00[AMR][1000 genomes]
rs1781870	1.00[AMR][1000 genomes]
rs1781871	1.00[AMR][1000 genomes]
rs1781876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781877	1.00[AMR][1000 genomes]
rs1781878	1.00[AMR][1000 genomes]
rs1781881	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781892	1.00[AMR][1000 genomes]
rs1781894	1.00[AMR][1000 genomes]
rs2105448	1.00[AMR][1000 genomes]
rs2537688	1.00[AMR][1000 genomes]
rs2537694	1.00[AMR][1000 genomes]
rs2801870	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv578950	chr19:21388995-21477431	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv911415	chr19:21388995-21487170	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv911418	chr19:21390608-21454672	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv517759	chr19:21391844-21420882	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv911419	chr19:21391844-21487170	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv978788	chr19:21403145-21458328	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21405800-21430000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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