Variant report

Variant	rs11754275
Chromosome Location	chr6:28743567-28743568
allele	A/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	SIN3A	chr6:28743359-28744428	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr6:28742989-28743830	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28741705..28743702-chr6:28750039..28751986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221191	TF binding region
ENSG00000235559	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11751023	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754985	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60252997	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6937342	1.00[ASN][1000 genomes]
rs73391145	1.00[ASN][1000 genomes]
rs73391160	1.00[ASN][1000 genomes]
rs73391168	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403150	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403152	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403176	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9393925	1.00[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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28740000-28746000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28740400-28745200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:28740800-28744400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:28741000-28745000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:28741200-28743800	Weak transcription	K562	blood
6	chr6:28741400-28743600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:28741600-28744400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:28742000-28743600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr6:28742600-28745200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:28742800-28744400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:28743000-28744200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:28743200-28743600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:28743200-28743600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr6:28743200-28743600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:28743200-28743800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:28743200-28743800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:28743200-28744200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr6:28743400-28743600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr6:28743400-28743600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr6:28743400-28743600	Bivalent Enhancer	Right Atrium	heart
21	chr6:28743400-28743800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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