Variant report

Variant	rs73580219
Chromosome Location	chr19:53083768-53083769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53072947..53075360-chr19:53081572..53083842,2	K562	blood:

Variant related genes	Relation type
ENSG00000167562	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs329936	1.00[ASN][1000 genomes]
rs364349	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs427127	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs433377	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs436565	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs454950	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs544869	0.81[AFR][1000 genomes]
rs564612	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73580214	1.00[ASN][1000 genomes]
rs73580218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73580221	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3489578	chr19:53079641-53084219	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3489576	chr19:53081090-53084588	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2545014	chr19:53081241-53083995	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3489577	chr19:53081540-53084388	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3489579	chr19:53081540-53084388	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
3	chr19:53074600-53084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53074600-53085800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:53074600-53087400	Weak transcription	Fetal Heart	heart
6	chr19:53074600-53088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
8	chr19:53075400-53084400	Strong transcription	Placenta	Placenta
9	chr19:53075400-53089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:53075400-53092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:53075400-53092400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:53075400-53092400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:53075600-53085600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:53075600-53087000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:53075600-53087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:53075800-53085000	Strong transcription	Fetal Stomach	stomach
17	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:53075800-53087400	Strong transcription	Osteobl	bone
20	chr19:53075800-53088000	Strong transcription	Rectal Smooth Muscle	rectum
21	chr19:53076400-53096000	Strong transcription	Dnd41	blood
22	chr19:53077600-53088000	Strong transcription	Fetal Brain Female	brain
23	chr19:53079000-53083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:53079200-53086400	Strong transcription	Ovary	ovary
25	chr19:53079200-53087400	Strong transcription	Brain Anterior Caudate	brain
26	chr19:53079200-53087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:53079200-53092200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:53079400-53084400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:53079400-53085200	ZNF genes & repeats	Lung	lung
30	chr19:53079400-53087000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:53079400-53087400	Strong transcription	Brain Germinal Matrix	brain
32	chr19:53079400-53087600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr19:53079400-53087600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:53079400-53088000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:53079400-53089400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:53079400-53090400	ZNF genes & repeats	Liver	Liver
37	chr19:53079400-53092200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr19:53079400-53094200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:53079400-53096000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:53079600-53083800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr19:53079600-53089600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:53079600-53091800	ZNF genes & repeats	Thymus	Thymus
43	chr19:53079800-53089200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:53079800-53091000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:53080200-53083800	Weak transcription	Fetal Kidney	kidney
46	chr19:53080200-53085400	Weak transcription	Stomach Mucosa	stomach
47	chr19:53080200-53089400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:53080400-53083800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:53080400-53084200	Weak transcription	NHDF-Ad	bronchial
50	chr19:53080400-53084800	Weak transcription	HMEC	breast

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