Variant report

Variant	rs11640180
Chromosome Location	chr16:48768353-48768354
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	MAFK	chr16:48768232-48768459	IMR90	lung:	n/a	chr16:48768346-48768355 chr16:48768344-48768360 chr16:48768348-48768358 chr16:48768341-48768357 chr16:48768341-48768356 chr16:48768345-48768359 chr16:48768342-48768362
2	MAFK	chr16:48768244-48768509	HepG2	liver:	n/a	chr16:48768346-48768355 chr16:48768344-48768360 chr16:48768348-48768358 chr16:48768341-48768357 chr16:48768341-48768356 chr16:48768345-48768359 chr16:48768342-48768362
3	MAFK	chr16:48768186-48768523	HepG2	liver:	n/a	chr16:48768346-48768355 chr16:48768344-48768360 chr16:48768348-48768358 chr16:48768341-48768357 chr16:48768341-48768356 chr16:48768345-48768359 chr16:48768342-48768362
4	GATA3	chr16:48768133-48768785	MCF-7	breast:	n/a	n/a
5	GATA3	chr16:48768041-48768905	MCF-7	breast:	n/a	n/a
6	GATA3	chr16:48768192-48768790	T-47D	breast:	n/a	n/a
7	MAFF	chr16:48768274-48768492	HepG2	liver:	n/a	chr16:48768345-48768359 chr16:48768339-48768357
8	GATA3	chr16:48768221-48768763	T-47D	breast:	n/a	n/a
9	NR2F2	chr16:48768324-48768812	MCF-7	breast:	n/a	n/a
10	MAFK	chr16:48768261-48768487	H1-hESC	embryonic stem cell:	n/a	chr16:48768346-48768355 chr16:48768344-48768360 chr16:48768348-48768358 chr16:48768341-48768357 chr16:48768341-48768356 chr16:48768345-48768359 chr16:48768342-48768362
11	EP300	chr16:48768245-48768642	MCF-7	breast:	n/a	n/a
12	GATA3	chr16:48768292-48768648	MCF-7	breast:	n/a	n/a
13	HDAC2	chr16:48768176-48768832	MCF-7	breast:	n/a	n/a
14	ZNF217	chr16:48768130-48768868	MCF-7	breast:	n/a	n/a
15	CEBPB	chr16:48768227-48768784	MCF-7	breast:	n/a	n/a
16	FOSL2	chr16:48768194-48768828	MCF-7	breast:	n/a	chr16:48768346-48768358 chr16:48768347-48768357
17	JUND	chr16:48768209-48768881	MCF-7	breast:	n/a	chr16:48768346-48768358 chr16:48768347-48768357
18	SIN3AK20	chr16:48767943-48768990	MCF-7	breast:	n/a	n/a
19	RAD21	chr16:48768046-48768837	MCF-7	breast:	n/a	n/a
20	GATA3	chr16:48767943-48768995	MCF-7	breast:	n/a	n/a
21	RAD21	chr16:48768167-48768711	MCF-7	breast:	n/a	n/a
22	EP300	chr16:48768152-48768897	MCF-7	breast:	n/a	chr16:48768718-48768731
23	HDAC2	chr16:48768214-48768785	MCF-7	breast:	n/a	n/a
24	TCF7L2	chr16:48768010-48768690	MCF-7	breast:	n/a	chr16:48768132-48768139 chr16:48768129-48768143
25	SIN3AK20	chr16:48768164-48768834	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-257P	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10521176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10521178	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076579	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076584	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076585	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076592	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076593	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11639986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640211	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641382	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11644548	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11646615	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647536	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866605	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102627	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12448845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339037	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339075	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420708	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420709	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420710	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420711	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420712	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894972	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968189	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968191	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981761	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981762	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355363	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28477531	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28612075	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344742	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8046056	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053980	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9940667	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833220	chr16:48747177-48899984	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48767800-48769000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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