Variant report

Variant	rs147062971
Chromosome Location	chr11:46742047-46742048
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
3	MYBL2	chr11:46741405-46742145	HepG2	liver:	n/a	n/a
4	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
6	HEY1	chr11:46742019-46742402	HepG2	liver:	n/a	n/a
7	FOXA2	chr11:46742046-46742477	A549	lung:	n/a	n/a
8	POLR2A	chr11:46741977-46742553	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46741871..46743470-chr11:46744640..46747616,2	K562	blood:
2	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
3	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
F2	TF binding region
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000180210	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:46740600-46742800	Active TSS	Liver	Liver
10	chr11:46741000-46742400	Weak transcription	Stomach Mucosa	stomach
11	chr11:46741400-46744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:46741800-46742400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr11:46741800-46746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:46742000-46745600	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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