Variant report

Variant	rs558277405
Chromosome Location	chr11:47211505-47211506
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:47210644-47211641	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:47211388-47211519	HepG2	liver:	n/a	n/a
3	FOXA1	chr11:47210687-47211505	HepG2	liver:	n/a	n/a
4	MYBL2	chr11:47210665-47211594	HepG2	liver:	n/a	n/a
5	GATA3	chr11:47210656-47211511	MCF-7	breast:	n/a	chr11:47211081-47211092
6	NR2F2	chr11:47210741-47211522	MCF-7	breast:	n/a	n/a
7	GTF3C2	chr11:47210574-47211552	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:47210647-47211621	HepG2	liver:	n/a	n/a
9	TEAD4	chr11:47210594-47211562	HepG2	liver:	n/a	n/a
10	RCOR1	chr11:47210414-47211653	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:47211492-47211620	K562	blood:	n/a	n/a
12	CEBPB	chr11:47210636-47211651	A549	lung:	n/a	n/a
13	SP1	chr11:47210540-47211541	A549	lung:	n/a	n/a
14	CEBPB	chr11:47211488-47211633	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:47210595-47211643	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
2	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
3	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
4	chr11:47205110..47208888-chr11:47209275..47211677,6	MCF-7	breast:
5	chr11:47210760..47211699-chr11:47264854..47265597,2	MCF-7	breast:
6	chr11:47209972..47212228-chr11:47292930..47294669,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000256746	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv975171	chr11:47209667-47215620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47208600-47211600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:47209000-47211600	Enhancers	Liver	Liver
3	chr11:47209200-47211800	Enhancers	Placenta	Placenta
4	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
5	chr11:47209400-47211600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:47209400-47211600	Enhancers	Fetal Intestine Large	intestine
7	chr11:47209400-47211600	Enhancers	Fetal Intestine Small	intestine
8	chr11:47209400-47213800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:47209600-47211600	Enhancers	Fetal Heart	heart
10	chr11:47209600-47213200	Weak transcription	Right Ventricle	heart
11	chr11:47209800-47214000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:47210600-47211600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:47210600-47211600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:47210600-47211600	Flanking Active TSS	Hela-S3	cervix
17	chr11:47210800-47211600	Flanking Active TSS	HepG2	liver
18	chr11:47210800-47211800	Enhancers	NH-A	brain
19	chr11:47211000-47211600	Enhancers	Right Atrium	heart
20	chr11:47211200-47211600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:47211200-47213800	Weak transcription	K562	blood
22	chr11:47211200-47215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:47211400-47212200	Enhancers	A549	lung
24	chr11:47211400-47213200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:47211400-47213600	Weak transcription	HMEC	breast
26	chr11:47211400-47213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:47211400-47214800	Weak transcription	NHEK	skin
28	chr11:47211400-47215200	Weak transcription	Osteobl	bone
29	chr11:47211400-47215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:47211400-47215400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:47211400-47215600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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