Variant report

Variant	rs9967643
Chromosome Location	chr19:53658075-53658076
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53655411..53659080-chr19:53660737..53664030,3	K562	blood:

Variant related genes	Relation type
ENSG00000197937	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10405476	0.98[ASN][1000 genomes]
rs10408917	0.86[EUR][1000 genomes]
rs10409594	0.93[ASN][1000 genomes]
rs12972886	0.86[EUR][1000 genomes]
rs1613687	0.85[EUR][1000 genomes]
rs1650972	0.85[EUR][1000 genomes]
rs2584269	0.85[EUR][1000 genomes]
rs7251457	0.85[EUR][1000 genomes]
rs7253161	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9967643	ZNF415	cis	Artery Tibial	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53643400-53660400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:53647800-53659200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:53649000-53660800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:53651800-53660800	Weak transcription	Fetal Heart	heart
7	chr19:53652000-53660400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:53652200-53661000	Weak transcription	HSMMtube	muscle
9	chr19:53652600-53659200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:53652600-53660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:53653000-53660400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:53653000-53660600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:53653200-53660200	Strong transcription	Fetal Stomach	stomach
14	chr19:53653600-53658200	Strong transcription	Ovary	ovary
15	chr19:53653600-53658600	Weak transcription	Left Ventricle	heart
16	chr19:53653600-53659200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:53653600-53659600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:53653600-53660000	Weak transcription	Brain Anterior Caudate	brain
19	chr19:53653600-53660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:53653600-53660000	Weak transcription	Fetal Brain Male	brain
21	chr19:53653600-53660400	Weak transcription	Right Ventricle	heart
22	chr19:53653600-53660600	Weak transcription	Psoas Muscle	Psoas
23	chr19:53653600-53660800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:53653600-53661000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:53653800-53659000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:53653800-53660000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:53653800-53660200	Weak transcription	Brain Germinal Matrix	brain
28	chr19:53653800-53660400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:53654000-53660400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:53654000-53660600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:53654000-53660600	Weak transcription	NHDF-Ad	bronchial
32	chr19:53654000-53660800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:53654000-53660800	Weak transcription	Placenta	Placenta
34	chr19:53654200-53660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:53654200-53660800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:53654200-53661000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:53654600-53659000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:53654600-53660600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:53654600-53660800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:53654800-53659000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr19:53655000-53660400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:53655200-53660600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:53655600-53660400	Weak transcription	Fetal Kidney	kidney
44	chr19:53655800-53660600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:53656000-53658800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr19:53656200-53658600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:53656200-53658800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:53656200-53659200	Strong transcription	Primary T cells from cord blood	blood
49	chr19:53656200-53660400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:53656200-53660800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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