Variant report

Variant	rs568774964
Chromosome Location	chr20:22548935-22548936
allele	A/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	TBP	chr20:22548633-22549215	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr20:22547785-22550361	NT2-D1	testis:	n/a	n/a
3	SP1	chr20:22548529-22548990	H1-hESC	embryonic stem cell:	n/a	chr20:22548581-22548595 chr20:22548582-22548591 chr20:22548575-22548584 chr20:22548580-22548592 chr20:22548581-22548591 chr20:22548581-22548590 chr20:22548580-22548592 chr20:22548917-22548926 chr20:22548573-22548585 chr20:22548963-22548973 chr20:22548574-22548588 chr20:22548574-22548584 chr20:22548915-22548927 chr20:22548915-22548927 chr20:22548963-22548973
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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22544600-22549400	Genic enhancers	Liver	Liver
2	chr20:22547000-22550800	Strong transcription	HepG2	liver
3	chr20:22547200-22549000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr20:22547800-22549800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:22548000-22549000	Enhancers	K562	blood
6	chr20:22548000-22549200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr20:22548200-22549000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:22548400-22549000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:22548400-22549400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr20:22548400-22549400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr20:22548600-22549400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr20:22548600-22549400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr20:22548600-22549600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr20:22548600-22549600	Enhancers	Lung	lung
17	chr20:22548600-22550400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr20:22548800-22549000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr20:22548800-22549000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:22548800-22549000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr20:22548800-22549000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr20:22548800-22549000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
23	chr20:22548800-22549000	Flanking Active TSS	Gastric	stomach
24	chr20:22548800-22549200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr20:22548800-22549200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:22548800-22549200	Bivalent Enhancer	Right Ventricle	heart
27	chr20:22548800-22549200	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr20:22548800-22549400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:22548800-22549400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr20:22548800-22549400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:22548800-22549400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr20:22548800-22549400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr20:22548800-22549600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr20:22548800-22549600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr20:22548800-22549600	Bivalent Enhancer	Spleen	Spleen
36	chr20:22548800-22549800	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr20:22548800-22549800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr20:22548800-22549800	Bivalent Enhancer	HMEC	breast
39	chr20:22548800-22550000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr20:22548800-22550000	Active TSS	Pancreas	Pancrea

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