Variant report

Variant	rs73983679
Chromosome Location	chr2:208926679-208926680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:208926615-208927225	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr2:208926549-208927401	A549	lung:	n/a	n/a
3	GATA1	chr2:208926597-208928153	PBDE	blood:	n/a	n/a
4	CTCF	chr2:208926660-208926810	HRPEpiC	eye:	n/a	n/a
5	GATA1	chr2:208926609-208927312	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208393455..208396354-chr2:208925710..208928306,2	K562	blood:
2	chr2:208926371..208927250-chr2:208936763..208937685,3	MCF-7	breast:
3	chr2:208610533..208611358-chr2:208926502..208927536,4	MCF-7	breast:
4	chr2:208926513..208930859-chr2:208931530..208934190,4	K562	blood:
5	chr2:208489759..208491901-chr2:208925964..208928924,2	K562	blood:
6	chr2:208925382..208927634-chr2:208938153..208941077,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000224839	TF binding region
ENSG00000238582	Chromatin interaction
ENSG00000144401	Chromatin interaction
ENSG00000223725	Chromatin interaction
ENSG00000118260	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs6732068	1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73983682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:208926000-208927800	Enhancers	K562	blood
3	chr2:208926400-208928800	Enhancers	Fetal Brain Male	brain

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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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