Variant report

Variant	rs544661033
Chromosome Location	chr20:22549677-22549678
allele	C/T
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	SUZ12	chr20:22547785-22550361	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr20:22549476-22550403	H1-neurons	neurons:	n/a	n/a
3	EGR1	chr20:22549468-22549810	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr20:22548639-22549785	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr20:22548308-22549987	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22537625..22541473-chr20:22546828..22550085,4	MCF-7	breast:

Variant related genes	Relation type
LINC00261	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3381101	chr20:22548552-22551550	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22547000-22550800	Strong transcription	HepG2	liver
2	chr20:22547800-22549800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr20:22548600-22550400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr20:22548800-22549800	Bivalent Enhancer	Colonic Mucosa	Colon
7	chr20:22548800-22549800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr20:22548800-22549800	Bivalent Enhancer	HMEC	breast
9	chr20:22548800-22550000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr20:22548800-22550000	Active TSS	Pancreas	Pancrea
11	chr20:22549000-22549800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:22549000-22550000	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr20:22549000-22551400	Weak transcription	K562	blood
14	chr20:22549200-22549800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:22549200-22549800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:22549200-22549800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr20:22549400-22549800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr20:22549400-22549800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr20:22549400-22549800	Bivalent Enhancer	Psoas Muscle	Psoas
20	chr20:22549400-22549800	Bivalent/Poised TSS	Stomach Mucosa	stomach
21	chr20:22549400-22549800	Active TSS	A549	lung
22	chr20:22549400-22550000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr20:22549400-22550000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:22549400-22555200	Enhancers	Liver	Liver
25	chr20:22549600-22549800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:22549600-22549800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:22549600-22549800	Bivalent Enhancer	Fetal Thymus	thymus
28	chr20:22549600-22550800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:22549600-22553000	Weak transcription	Gastric	stomach

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