Variant report

Variant	rs373830998
Chromosome Location	chr19:51891298-51891299
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	EGR1	chr19:51891290-51891507	GM12878	blood:	n/a	chr19:51891390-51891404 chr19:51891393-51891406 chr19:51891387-51891397 chr19:51891392-51891407 chr19:51891394-51891405 chr19:51891388-51891403
2	BCL3	chr19:51891278-51891697	GM12878	blood:	n/a	n/a
3	MAFK	chr19:51891221-51891560	HepG2	liver:	n/a	n/a
4	EGR1	chr19:51891277-51891491	GM12878	blood:	n/a	chr19:51891390-51891404 chr19:51891393-51891406 chr19:51891387-51891397 chr19:51891392-51891407 chr19:51891394-51891405 chr19:51891388-51891403
5	YY1	chr19:51891264-51891692	HepG2	liver:	n/a	n/a
6	MYBL2	chr19:51891256-51891640	HepG2	liver:	n/a	n/a
7	MAFF	chr19:51891250-51891561	HepG2	liver:	n/a	n/a
8	RUNX3	chr19:51891260-51891518	GM12878	blood:	n/a	n/a
9	RELA	chr19:51891270-51891667	GM12891	blood:	n/a	n/a
10	BCL3	chr19:51891282-51891661	GM12878	blood:	n/a	n/a
11	FOXA1	chr19:51891290-51891606	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51859965..51862618-chr19:51891276..51893885,2	K562	blood:
2	chr19:51867909..51871447-chr19:51887318..51891818,5	K562	blood:
3	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:
4	chr19:51867909..51871717-chr19:51887380..51891573,4	K562	blood:
5	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:

Variant related genes	Relation type
LIM2	TF binding region
ENSG00000268889	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268520	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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv14170	chr19:51891298-51892818	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51872000-51897000	Weak transcription	Right Atrium	heart
2	chr19:51887800-51893400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:51889200-51893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:51889200-51893800	Weak transcription	GM12878-XiMat	blood
5	chr19:51889200-51897000	Weak transcription	Spleen	Spleen
6	chr19:51889400-51893000	Weak transcription	K562	blood
7	chr19:51890200-51891800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr19:51890200-51892600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:51890200-51893000	Flanking Active TSS	HepG2	liver
10	chr19:51890200-51893200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:51890400-51891800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:51890400-51892000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:51890600-51891800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:51890800-51891600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:51890800-51892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:51891000-51894400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:51891000-51897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:51891200-51891600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:51891200-51892600	Enhancers	Fetal Intestine Small	intestine
20	chr19:51891200-51894200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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