Variant report

Variant	rs62156295
Chromosome Location	chr2:98973300-98973301
allele	A/C
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	TCF7L2	chr2:98973219-98973481	MCF-7	breast:	n/a	n/a
2	GATA3	chr2:98973183-98973568	T-47D	breast:	n/a	n/a
3	JUND	chr2:98973086-98973629	A549	lung:	n/a	chr2:98973230-98973240 chr2:98973380-98973391
4	GABPA	chr2:98973091-98973515	A549	lung:	n/a	n/a
5	GATA3	chr2:98972890-98973841	A549	lung:	n/a	n/a
6	FOSL2	chr2:98972853-98973726	A549	lung:	n/a	chr2:98973230-98973240
7	EP300	chr2:98972849-98973707	A549	lung:	n/a	chr2:98973324-98973334
8	BCL3	chr2:98973063-98973601	A549	lung:	n/a	n/a
9	FOXA2	chr2:98972762-98973571	A549	lung:	n/a	n/a
10	TCF7L2	chr2:98972896-98973626	PANC-1	pancreas:	n/a	n/a
11	GATA3	chr2:98973025-98973595	A549	lung:	n/a	n/a
12	REST	chr2:98973062-98973628	A549	lung:	n/a	n/a
13	REST	chr2:98973126-98973464	A549	lung:	n/a	n/a
14	ZBTB33	chr2:98973241-98973576	A549	lung:	n/a	n/a
15	FOS	chr2:98973245-98973557	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr2:98973264-98973560	HepG2	liver:	n/a	chr2:98973380-98973391
17	FOXA2	chr2:98972794-98973664	A549	lung:	n/a	n/a
18	EP300	chr2:98973030-98973654	A549	lung:	n/a	chr2:98973324-98973334
19	FOS	chr2:98973249-98973556	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr2:98973092-98973689	T-47D	breast:	n/a	chr2:98973230-98973240 chr2:98973380-98973391
21	FOXA1	chr2:98973259-98973572	T-47D	breast:	n/a	chr2:98973414-98973429
22	TCF12	chr2:98972772-98973803	A549	lung:	n/a	n/a
23	SP1	chr2:98973025-98973661	A549	lung:	n/a	n/a
24	FOSL2	chr2:98973084-98973561	A549	lung:	n/a	chr2:98973230-98973240
25	FOS	chr2:98973267-98973467	MCF10A-Er-Src	breast:	n/a	n/a
26	SP1	chr2:98972827-98973701	A549	lung:	n/a	n/a
27	GATA3	chr2:98973192-98973551	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98947397..98949375-chr2:98973131..98975837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222000	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12463618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546351	0.84[ASN][1000 genomes]
rs1546352	0.99[ASN][1000 genomes]
rs34118499	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769755	0.88[ASN][1000 genomes]
rs4850873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4851127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55690937	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55851325	0.99[ASN][1000 genomes]
rs55869498	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56112202	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56289599	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56859980	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs57502811	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs57738681	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58799739	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59040049	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59952489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60400559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156307	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62156315	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62156316	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6732568	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6732654	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6734225	0.90[EUR][1000 genomes]
rs72819945	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs867588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937728	0.99[ASN][1000 genomes]
rs937729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1010466	chr2:98938886-98998109	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013617	chr2:98943377-99004173	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98972400-98974000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:98972400-98974000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:98972600-98974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:98973200-98973400	Flanking Active TSS	A549	lung

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