Variant report

Variant	rs73028358
Chromosome Location	chr19:38705367-38705368
allele	C/G
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	POLR2A	chr19:38704444-38705383	A549	lung:	n/a	n/a
2	POLR2A	chr19:38704386-38705409	HL-60	blood:	n/a	n/a
3	EBF1	chr19:38704476-38705398	GM12878	blood:	n/a	n/a
4	BCL3	chr19:38704397-38705416	A549	lung:	n/a	n/a
5	EBF1	chr19:38704394-38705437	GM12878	blood:	n/a	n/a
6	MTA3	chr19:38704450-38705450	GM12878	blood:	n/a	n/a
7	RUNX3	chr19:38704393-38705440	GM12878	blood:	n/a	chr19:38705095-38705112 chr19:38704682-38704697
8	RUNX3	chr19:38704372-38705428	GM12878	blood:	n/a	chr19:38705095-38705112 chr19:38704682-38704697

No.	Distal block	Cell Line	Cell type
1	chr19:38701793..38708887-chr19:38709877..38716652,10	K562	blood:
2	chr19:38704600..38706484-chr19:38706623..38709173,2	K562	blood:
3	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
4	chr19:38704545..38706333-chr19:38863890..38866208,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000011332	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2304172	1.00[AFR][1000 genomes]
rs73630123	1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38685400-38713800	Weak transcription	HepG2	liver
2	chr19:38697400-38706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:38701400-38714600	Weak transcription	Right Atrium	heart
4	chr19:38701800-38713200	Weak transcription	NHEK	skin
5	chr19:38702400-38705600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:38702600-38708800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:38702600-38709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:38702600-38713600	Weak transcription	Fetal Lung	lung
9	chr19:38702600-38714200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:38702600-38714400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:38702800-38705400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:38702800-38707600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:38702800-38708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:38702800-38709000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:38702800-38709000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:38702800-38712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:38702800-38714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:38702800-38714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:38703200-38705400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr19:38703400-38706800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:38703600-38705400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38703800-38705400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr19:38703800-38705400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:38703800-38705400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:38703800-38705400	Enhancers	Fetal Brain Male	brain
26	chr19:38704000-38705400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:38704000-38705400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr19:38704000-38705400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:38704000-38705400	Enhancers	Dnd41	blood
30	chr19:38704000-38705400	Enhancers	GM12878-XiMat	blood
31	chr19:38704000-38705400	Enhancers	HSMM	muscle
32	chr19:38704000-38705400	Enhancers	NH-A	brain
33	chr19:38704200-38705400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:38704200-38705400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:38704200-38705400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:38704200-38705400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:38704200-38705400	Enhancers	HMEC	breast
38	chr19:38704200-38705600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:38704200-38705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:38704400-38705400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:38704400-38705400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:38704400-38705400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:38704400-38705400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr19:38704400-38705400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:38704400-38705400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr19:38704400-38705400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:38704400-38705400	Genic enhancers	Fetal Brain Female	brain
48	chr19:38704400-38705400	Genic enhancers	NHLF	lung
49	chr19:38704400-38705400	Flanking Active TSS	Osteobl	bone
50	chr19:38704600-38705400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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