Variant report

Variant	rs62115582
Chromosome Location	chr19:51309046-51309047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51305179-51309471	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51225685..51229614-chr19:51306371..51310193,7	MCF-7	breast:
2	chr19:51308172..51309760-chr19:51328581..51330697,2	MCF-7	breast:
3	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
4	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
5	chr19:51309000..51310617-chr19:51310655..51313599,2	MCF-7	breast:
6	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
7	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
8	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf48	TF binding region
SNORD88C	TF binding region
ENSG00000180279	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000167748	Chromatin interaction
ENSG00000167751	Chromatin interaction
ENSG00000267968	Chromatin interaction
ENSG00000167749	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv519121	chr19:51308092-51332670	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1960032	chr19:51309038-51309046	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51308600-51309200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:51308600-51309200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr19:51308600-51309200	Flanking Active TSS	Dnd41	blood
4	chr19:51308600-51309400	Enhancers	Spleen	Spleen
5	chr19:51308600-51309600	Enhancers	Pancreas	Pancrea
6	chr19:51308800-51309200	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:51308800-51309200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr19:51308800-51309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:51308800-51309200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:51308800-51309200	Enhancers	Brain Hippocampus Middle	brain
11	chr19:51308800-51309200	Enhancers	Fetal Brain Male	brain
12	chr19:51308800-51309400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:51308800-51309400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:51308800-51309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:51308800-51309600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:51308800-51309600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr19:51308800-51310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:51308800-51311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:51308800-51311600	Weak transcription	Right Atrium	heart
20	chr19:51309000-51309200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:51309000-51309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:51309000-51309200	Enhancers	Liver	Liver
23	chr19:51309000-51309200	Flanking Active TSS	GM12878-XiMat	blood
24	chr19:51309000-51309400	Enhancers	Brain Angular Gyrus	brain
25	chr19:51309000-51309400	Enhancers	Hela-S3	cervix
26	chr19:51309000-51309400	Enhancers	HepG2	liver
27	chr19:51309000-51309400	Flanking Active TSS	K562	blood

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