Variant report

Variant	rs181508916
Chromosome Location	chr18:44775572-44775573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:44775460-44775610	SK-N-SH_RA	brain:	n/a	n/a
2	MAX	chr18:44774796-44775673	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr18:44774394-44775724	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr18:44775472-44775573	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr18:44774461-44775722	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:44774816-44776884	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr18:44774597-44775820	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr18:44774788-44777375	H1-neurons	neurons:	n/a	n/a
9	ZNF143	chr18:44775361-44775716	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr18:44774377-44775738	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF2	chr18:44775136-44775601	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr18:44774693-44775689	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr18:44774389-44775902	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr18:44775317-44775645	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr18:44775353-44775672	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr18:44775132-44775656	H1-hESC	embryonic stem cell:	n/a	n/a

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Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1817234	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	esv1822582	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	esv3328170	chr18:44772504-44776302	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3355587	chr18:44772804-44775952	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	esv3408770	chr18:44773179-44775927	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	esv20807	chr18:44774050-44775630	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv576821	chr18:44774180-44775573	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv576822	chr18:44774570-44775573	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44774800-44775600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:44774800-44775600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44774800-44775600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:44774800-44775600	ZNF genes & repeats	Pancreas	Pancrea
5	chr18:44775000-44775600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr18:44775000-44775800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr18:44775200-44775600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:44775400-44775600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr18:44775400-44775600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr18:44775400-44775600	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr18:44775400-44775600	Bivalent Enhancer	Left Ventricle	heart
12	chr18:44775400-44775600	Bivalent Enhancer	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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