Variant report

Variant	rs35781568
Chromosome Location	chr4:119995059-119995060
allele	C/T
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	POLR2A	chr4:119994931-119995223	MCF-7	breast:	n/a	n/a
2	FOXA1	chr4:119995035-119995435	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:119994985-119995249	H1-hESC	embryonic stem cell:	n/a	n/a
4	SETDB1	chr4:119994677-119995125	U2OS	brain:	n/a	n/a
5	FOXA2	chr4:119994913-119995575	A549	lung:	n/a	n/a
6	POLR2A	chr4:119994917-119995235	MCF-7	breast:	n/a	n/a
7	POLR2A	chr4:119994993-119995228	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119977183..119980062-chr4:119993153..119995599,2	MCF-7	breast:
2	chr4:119993551..119997144-chr4:120131428..120134672,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249356	TF binding region
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11098474	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098478	0.91[AFR][1000 genomes]
rs1119909	0.91[AFR][1000 genomes]
rs12498258	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12506805	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506823	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506878	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12509365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12641581	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12641599	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13121152	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13130658	0.82[EUR][1000 genomes]
rs13131041	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13145134	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1964519	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2085660	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100709	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34601157	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197635	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438744	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66909626	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6831924	0.92[AFR][1000 genomes]
rs766350	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9760321	0.80[EUR][1000 genomes]
rs985875	0.86[ASN][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
2	chr4:119979200-119996400	Weak transcription	Aorta	Aorta
3	chr4:119992600-119999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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