Variant report

Variant	rs1994113
Chromosome Location	chr4:60496756-60496757
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	EP300	chr4:60496662-60497025	T-47D	breast:	n/a	chr4:60496978-60496988
2	GATA3	chr4:60496713-60497058	MCF-7	breast:	n/a	n/a
3	FOXA1	chr4:60496561-60496996	T-47D	breast:	n/a	n/a
4	JUND	chr4:60496521-60497188	T-47D	breast:	n/a	n/a
5	GATA3	chr4:60496488-60497032	T-47D	breast:	n/a	n/a
6	EP300	chr4:60496523-60497138	T-47D	breast:	n/a	chr4:60497080-60497094 chr4:60496978-60496988 chr4:60497072-60497086 chr4:60497078-60497092
7	JUND	chr4:60496498-60497247	T-47D	breast:	n/a	n/a
8	GATA3	chr4:60496497-60497086	T-47D	breast:	n/a	n/a
9	FOXA1	chr4:60496572-60496995	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000249392	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10016302	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10020855	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10866168	0.94[ASN][1000 genomes]
rs11937399	0.94[ASN][1000 genomes]
rs12499518	0.80[ASN][1000 genomes]
rs12512333	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1482701	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1482702	0.91[ASN][1000 genomes]
rs1588704	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1825238	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842813	0.88[ASN][1000 genomes]
rs1996126	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2086657	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3860624	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4860719	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6551936	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6551937	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6551938	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6828407	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6828465	0.92[ASN][1000 genomes]
rs6832660	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6842739	0.92[ASN][1000 genomes]
rs6857458	0.92[ASN][1000 genomes]
rs6858577	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7659697	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7660260	0.91[ASN][1000 genomes]
rs7675400	0.91[ASN][1000 genomes]
rs7683528	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879048	chr4:60053789-60512343	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1012748	chr4:60385942-60546407	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007782	chr4:60385942-60550708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1003847	chr4:60406832-60538697	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537107	chr4:60406832-60538697	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2760852	chr4:60424576-60863454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1002303	chr4:60436293-60506680	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv879052	chr4:60458820-60538549	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv967993	chr4:60480224-60496969	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv594253	chr4:60487235-60549283	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3396283	chr4:60496697-60497059	Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60495800-60497000	Enhancers	Liver	Liver

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