Variant report

Variant	rs552432233
Chromosome Location	chr19:38718202-38718203
allele	G/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:10)
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	CUX1	chr19:38718164-38718355	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38717093..38718677-chr19:38724126..38726976,2	K562	blood:
2	chr19:38718052..38720655-chr19:38755234..38758069,2	MCF-7	breast:
3	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
4	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
5	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:
6	chr19:38651241..38653210-chr19:38716095..38718461,3	K562	blood:
7	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
8	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
9	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:
10	chr19:38651349..38653210-chr19:38716095..38718461,2	K562	blood:

No data

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000179168	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000099338	Chromatin interaction

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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3437908	chr19:38717937-38720485	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3440033	chr19:38718162-38720160	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715200-38719000	Weak transcription	Right Atrium	heart
2	chr19:38715200-38719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:38715200-38719200	Weak transcription	Pancreas	Pancrea
4	chr19:38715400-38718400	Weak transcription	Brain Angular Gyrus	brain
5	chr19:38715400-38718400	Weak transcription	Fetal Heart	heart
6	chr19:38715400-38718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:38715400-38719200	Weak transcription	NH-A	brain
9	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
10	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
11	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
12	chr19:38716600-38718400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:38716600-38719200	Enhancers	A549	lung
15	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr19:38716800-38718600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
18	chr19:38717000-38718800	Flanking Active TSS	Fetal Brain Female	brain
19	chr19:38717200-38718600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr19:38717400-38718400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:38717400-38718600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr19:38717400-38718600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:38717400-38719200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:38717600-38719400	Weak transcription	K562	blood
25	chr19:38718000-38718400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr19:38718000-38718400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr19:38718000-38718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:38718000-38718600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:38718000-38718800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr19:38718000-38718800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr19:38718000-38719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:38718000-38719000	Enhancers	NHEK	skin
33	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:38718200-38718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr19:38718200-38718400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr19:38718200-38718400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:38718200-38718600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:38718200-38718800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:38718200-38718800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr19:38718200-38718800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:38718200-38718800	Bivalent Enhancer	Liver	Liver
42	chr19:38718200-38719000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38718200-38720000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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