Variant report

Variant	rs2362215
Chromosome Location	chr1:214775560-214775561
allele	A/G
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	GATA3	chr1:214775278-214775592	SH-SY5Y	brain:	n/a	n/a
2	GATA1	chr1:214775337-214776917	PBDE	blood:	n/a	n/a
3	TBL1XR1	chr1:214775455-214776586	K562	blood:	n/a	n/a
4	ARID3A	chr1:214775385-214776694	K562	blood:	n/a	chr1:214776181-214776197

No.	Distal block	Cell Line	Cell type
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
2	chr1:214723767..214726550-chr1:214774637..214776348,2	MCF-7	breast:
3	chr1:214773497..214776791-chr1:214785798..214789572,5	K562	blood:
4	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region
ENSG00000143499	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000250536	Chromatin interaction
ENSG00000224584	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10494981	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs10494982	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11120362	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11120363	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11120364	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11487824	0.89[ASN][1000 genomes]
rs11487873	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11487874	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11802860	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11804330	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11806558	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12067115	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12068412	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17736682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17736783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17792674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290199	1.00[AFR][1000 genomes]
rs35222159	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35329321	1.00[CEU][hapmap]
rs41277186	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56756772	0.81[ASN][1000 genomes]
rs58019184	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58523012	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61732042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:214774200-214776000	Enhancers	HepG2	liver
2	chr1:214775200-214775600	Enhancers	Dnd41	blood
3	chr1:214775400-214775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:214775400-214775600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:214775400-214775600	Flanking Active TSS	A549	lung
6	chr1:214775400-214775600	Enhancers	NHEK	skin
7	chr1:214775400-214775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:214775400-214776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:214775400-214776200	Flanking Active TSS	K562	blood

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