Variant report

Variant	rs73930687
Chromosome Location	chr19:40531913-40531914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:40531835-40532159	K562	blood:	n/a	n/a
2	KAP1	chr19:40531635-40532635	K562	blood:	n/a	n/a
3	SETDB1	chr19:40531820-40532655	U2OS	brain:	n/a	n/a
4	SETDB1	chr19:40531740-40533276	K562	blood:	n/a	n/a
5	POLR2A	chr19:40531707-40536932	PANC-1	pancreas:	n/a	n/a
6	TRIM28	chr19:40531860-40532095	K562	blood:	n/a	n/a
7	TCF12	chr19:40531642-40532263	A549	lung:	n/a	n/a
8	GTF2F1	chr19:40531802-40532164	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr19:40531796-40532144	K562	blood:	n/a	n/a
10	REST	chr19:40531505-40536927	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:40528255-40543887	PANC-1	pancreas:	n/a	n/a
12	CBX3	chr19:40531763-40532190	K562	blood:	n/a	n/a
13	TRIM28	chr19:40531842-40532201	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40531699..40533230-chr19:40595254..40597756,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000269069	TF binding region
ENSG00000269749	Chromatin interaction
ENSG00000197782	Chromatin interaction
ENSG00000269296	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16974071	1.00[AMR][1000 genomes]
rs55762434	1.00[AMR][1000 genomes]
rs55795637	1.00[AMR][1000 genomes]
rs58622948	1.00[AMR][1000 genomes]
rs73930656	1.00[AMR][1000 genomes]
rs73930673	1.00[AMR][1000 genomes]
rs73930685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930688	1.00[AMR][1000 genomes]
rs73930693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930697	1.00[AMR][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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:40521200-40540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:40528600-40543800	ZNF genes & repeats	Liver	Liver
4	chr19:40529000-40543800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:40529200-40543800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:40529200-40543800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:40529400-40533800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:40529400-40534200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:40530600-40543800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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