Variant report

Variant	rs1606994
Chromosome Location	chr2:183934022-183934023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:183933979-183934281	K562	blood:	n/a	n/a
2	ELF1	chr2:183933855-183934168	K562	blood:	n/a	chr2:183934037-183934050
3	TRIM28	chr2:183933975-183934257	K562	blood:	n/a	n/a
4	ZNF143	chr2:183933944-183934302	K562	blood:	n/a	n/a
5	TRIM28	chr2:183933851-183934346	K562	blood:	n/a	n/a
6	POLR2A	chr2:183933975-183934265	HepG2	liver:	n/a	n/a
7	KAP1	chr2:183933606-183934452	K562	blood:	n/a	n/a
8	SETDB1	chr2:183933815-183934502	U2OS	brain:	n/a	n/a
9	SPI1	chr2:183933892-183934117	K562	blood:	n/a	n/a
10	KAP1	chr2:183933877-183934469	HEK293	kidney:	n/a	n/a
11	CBX3	chr2:183933924-183934275	K562	blood:	n/a	n/a
12	SETDB1	chr2:183933761-183934876	K562	blood:	n/a	n/a
13	CBX3	chr2:183933795-183934388	K562	blood:	n/a	n/a
14	NFYB	chr2:183933901-183934101	K562	blood:	n/a	n/a
15	SPI1	chr2:183933917-183934174	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	chr2:183929733..183934138-chr2:183940647..183944652,6	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11676029	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675114	0.95[ASN][1000 genomes]
rs2675115	0.97[ASN][1000 genomes]
rs2675116	1.00[ASN][1000 genomes]
rs2952345	0.92[AFR][1000 genomes]
rs3791247	0.83[ASN][1000 genomes]
rs6754851	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183933400-183934200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:183933400-183934800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:183933400-183934800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:183933600-183935600	Weak transcription	Pancreas	Pancrea

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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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