Variant report

Variant	rs531249450
Chromosome Location	chr20:22633692-22633693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22626256..22628397-chr20:22632199..22635114,3	MCF-7	breast:

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	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	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3442827	chr20:22632852-22637550	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3379368	chr20:22633452-22636850	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3346402	chr20:22633652-22636850	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22632400-22634200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:22633000-22633800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:22633000-22633800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr20:22633000-22634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22633000-22634400	Enhancers	Colon Smooth Muscle	Colon
6	chr20:22633000-22634800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr20:22633200-22633800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr20:22633200-22633800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr20:22633200-22633800	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr20:22633200-22634200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr20:22633200-22634200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr20:22633200-22635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:22633400-22633800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr20:22633400-22633800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr20:22633400-22634000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr20:22633400-22634200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:22633400-22634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:22633400-22635000	Enhancers	HSMM	muscle
19	chr20:22633600-22633800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr20:22633600-22633800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr20:22633600-22633800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:22633600-22634000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr20:22633600-22634600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr20:22633600-22634800	Enhancers	HSMMtube	muscle

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