Variant report

Variant	rs557219051
Chromosome Location	chr15:74555674-74555675
allele	A/C
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	GATA2	chr15:74555481-74555898	SH-SY5Y	brain:	n/a	chr15:74555680-74555687 chr15:74555680-74555687 chr15:74555676-74555692 chr15:74555680-74555687
2	REST	chr15:74555643-74556327	PFSK-1	brain:	n/a	chr15:74555689-74555703
3	GATA3	chr15:74555331-74555850	SH-SY5Y	brain:	n/a	chr15:74555680-74555687 chr15:74555680-74555687 chr15:74555676-74555692 chr15:74555680-74555687
4	REST	chr15:74555552-74557904	H1-neurons	neurons:	n/a	chr15:74557566-74557575 chr15:74557574-74557584 chr15:74557567-74557585 chr15:74556945-74556958 chr15:74555689-74555703 chr15:74557566-74557586 chr15:74557566-74557586 chr15:74557569-74557582 chr15:74557566-74557586 chr15:74557569-74557582 chr15:74557566-74557579 chr15:74557572-74557586

No.	Distal block	Cell Line	Cell type
1	chr15:74550593..74553035-chr15:74555004..74556677,2	K562	blood:
2	chr15:74555453..74556406-chr15:74595045..74595674,2	MCF-7	breast:
3	chr15:74553348..74555931-chr15:74563585..74566018,2	K562	blood:

Variant related genes	Relation type
CCDC33	TF binding region
ENSG00000261384	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1035367	chr15:74554972-74586538	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74548600-74558000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr15:74549200-74556200	Enhancers	Brain Germinal Matrix	brain
3	chr15:74549400-74557800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:74550000-74557800	Enhancers	Fetal Brain Male	brain
5	chr15:74552200-74555800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:74552200-74556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:74552400-74555800	Weak transcription	Fetal Heart	heart
8	chr15:74553200-74556600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:74553400-74556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:74553800-74556400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr15:74553800-74557400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:74554400-74557600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:74555000-74556000	Weak transcription	Spleen	Spleen
14	chr15:74555200-74557600	Enhancers	Fetal Brain Female	brain
15	chr15:74555600-74555800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
16	chr15:74555600-74555800	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr15:74555600-74555800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr15:74555600-74556200	Bivalent Enhancer	Fetal Lung	lung
19	chr15:74555600-74556400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr15:74555600-74556400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:74555600-74557000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:74555600-74557000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:74555600-74557400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:74555600-74557600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:74555600-74557600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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