Variant report

Variant	rs599116
Chromosome Location	chr11:73348190-73348191
allele	C/G
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	YY1	chr11:73348046-73348385	GM12892	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
2	YY1	chr11:73348087-73348408	A549	lung:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
3	YY1	chr11:73348100-73348444	K562	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
4	YY1	chr11:73348046-73348431	K562	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
5	YY1	chr11:73348080-73348371	SK-N-SH_RA	brain:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
6	YY1	chr11:73348126-73348338	HCT-116	colon:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
7	YY1	chr11:73348069-73348430	HepG2	liver:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
8	YY1	chr11:73348125-73348447	SK-N-SH_RA	brain:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
9	YY1	chr11:73348090-73348370	HCT-116	colon:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
10	YY1	chr11:73348117-73348433	GM12878	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
11	YY1	chr11:73347987-73348487	H1-hESC	embryonic stem cell:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
12	YY1	chr11:73348126-73348422	GM12892	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
13	YY1	chr11:73348045-73348466	ECC-1	luminal epithelium:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
14	YY1	chr11:73348050-73348418	ECC-1	luminal epithelium:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
15	TEAD4	chr11:73348010-73348478	K562	blood:	n/a	n/a
16	YY1	chr11:73348106-73348395	GM12878	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
17	YY1	chr11:73348055-73348389	H1-hESC	embryonic stem cell:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
18	YY1	chr11:73348078-73348404	GM12878	blood:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
19	YY1	chr11:73348046-73348467	SK-N-SH	brain:	n/a	chr11:73348255-73348267 chr11:73348231-73348243
20	ZC3H11A	chr11:73348119-73348296	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73346668..73349318-chr11:73351327..73353012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270323	TF binding region
ENSG00000270323	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12293194	1.00[AMR][1000 genomes]
rs1621654	1.00[AMR][1000 genomes]
rs1670574	1.00[AMR][1000 genomes]
rs1976913	1.00[AMR][1000 genomes]
rs2511273	1.00[AMR][1000 genomes]
rs2511275	1.00[AMR][1000 genomes]
rs4551800	1.00[AMR][1000 genomes]
rs594814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610280	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs641423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs652229	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950472	1.00[AMR][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73346000-73351400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:73346200-73351400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:73346200-73351400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:73346400-73350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:73346400-73350400	Weak transcription	Fetal Thymus	thymus
6	chr11:73346800-73350400	Weak transcription	Primary T cells from cord blood	blood

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