Variant report

Variant	rs4850873
Chromosome Location	chr2:98972962-98972963
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	GATA3	chr2:98972890-98973841	A549	lung:	n/a	n/a
2	FOSL2	chr2:98972853-98973726	A549	lung:	n/a	chr2:98973230-98973240
3	EP300	chr2:98972849-98973707	A549	lung:	n/a	chr2:98973324-98973334
4	FOXA2	chr2:98972762-98973571	A549	lung:	n/a	n/a
5	TCF7L2	chr2:98972896-98973626	PANC-1	pancreas:	n/a	n/a
6	FOXA2	chr2:98972794-98973664	A549	lung:	n/a	n/a
7	TCF12	chr2:98972772-98973803	A549	lung:	n/a	n/a
8	SP1	chr2:98972827-98973701	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000222000	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1111581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1111583	1.00[CHB][hapmap]
rs12463618	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12464558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12467200	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1546351	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1546352	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs34118499	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3769755	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs4851126	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55690937	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55851325	0.98[ASN][1000 genomes]
rs55869498	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56112202	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56289599	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56859980	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs57502811	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs57738681	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58799739	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59040049	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs59952489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60400559	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62156295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62156307	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62156315	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62156316	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6732568	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6732654	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6734225	0.90[EUR][1000 genomes]
rs72819945	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs867588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs937728	1.00[CHB][hapmap];0.83[JPT][hapmap];0.98[ASN][1000 genomes]
rs937729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv960976	chr2:98967643-98973191	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 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

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