Variant report

Variant	rs1511816
Chromosome Location	chr4:74920941-74920942
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
PPBPP2	TF binding region
ENSG00000269559	Chromatin interaction
ENSG00000163734	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2251815	0.81[AFR][1000 genomes]
rs352008	0.86[AFR][1000 genomes]
rs57046552	0.84[AFR][1000 genomes]
rs61292372	0.84[AFR][1000 genomes]

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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74911200-74921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74913200-74921600	Weak transcription	A549	lung
3	chr4:74919200-74921600	Enhancers	Dnd41	blood
4	chr4:74919600-74922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:74919600-74925200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:74919800-74921000	Enhancers	Thymus	Thymus
7	chr4:74919800-74921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:74919800-74921800	Enhancers	Fetal Thymus	thymus
9	chr4:74919800-74924600	Enhancers	Hela-S3	cervix
10	chr4:74920200-74921200	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:74920200-74921800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:74920200-74922000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:74920600-74921000	Enhancers	Stomach Mucosa	stomach
14	chr4:74920600-74921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:74920800-74921000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:74920800-74921000	Flanking Active TSS	K562	blood
17	chr4:74920800-74921800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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

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