Variant report

Variant	rs72948900
Chromosome Location	chr2:58470165-58470166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:58470037-58470181	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:58468655..58470586-chr2:58617618..58620030,2	K562	blood:
2	chr2:58454709..58457250-chr2:58468268..58470995,2	K562	blood:
3	chr2:58469020..58471826-chr2:58494493..58498239,3	K562	blood:
4	chr2:58373370..58376170-chr2:58468989..58470731,2	K562	blood:
5	chr2:58468761..58471826-chr2:58495168..58498239,4	K562	blood:

No data

Variant related genes	Relation type
FANCL	TF binding region
ENSG00000115392	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs17049332	1.00[AMR][1000 genomes]
rs17049336	1.00[AMR][1000 genomes]
rs17049352	1.00[AMR][1000 genomes]
rs57334221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58276647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58321248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58440082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58950743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59323329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59350619	1.00[AMR][1000 genomes]
rs60949622	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60987670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733307	1.00[AMR][1000 genomes]
rs72948807	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948810	0.84[AFR][1000 genomes]
rs72948815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948818	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948825	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951053	1.00[AMR][1000 genomes]
rs72951061	1.00[AMR][1000 genomes]
rs72951063	1.00[AMR][1000 genomes]
rs72951079	1.00[AMR][1000 genomes]
rs72951080	1.00[AMR][1000 genomes]
rs72951097	1.00[AMR][1000 genomes]
rs72953110	1.00[AMR][1000 genomes]
rs72953112	1.00[AMR][1000 genomes]
rs72953119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953122	1.00[AMR][1000 genomes]
rs72953124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579768	1.00[AMR][1000 genomes]
rs7580070	0.90[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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58468600-58470200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:58468600-58471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:58469000-58470200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:58469000-58470400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:58469000-58470800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:58469800-58470400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:58470000-58470200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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