Variant report

Variant	rs73933218
Chromosome Location	chr19:40723747-40723748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40721117..40723953-chr19:40725760..40727528,2	K562	blood:
2	chr19:40714420..40716705-chr19:40721840..40724225,2	K562	blood:
3	chr19:40722262..40725312-chr19:40726429..40730380,4	MCF-7	breast:
4	chr19:40723230..40725206-chr19:40730553..40733160,2	MCF-7	breast:
5	chr19:40722002..40724261-chr19:40789079..40792675,3	MCF-7	breast:
6	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
7	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
8	chr19:40723301..40724804-chr20:35806454..35807992,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105219	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000118705	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000101353	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11666690	0.84[ASN][1000 genomes]
rs11667443	0.84[ASN][1000 genomes]
rs11669006	0.84[ASN][1000 genomes]
rs11669332	0.84[ASN][1000 genomes]
rs11670860	0.92[ASN][1000 genomes]
rs11671439	0.84[ASN][1000 genomes]
rs17846842	0.92[ASN][1000 genomes]
rs2356230	0.90[ASN][1000 genomes]
rs28746190	0.92[ASN][1000 genomes]
rs36058450	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730052	0.92[ASN][1000 genomes]
rs3730055	0.92[ASN][1000 genomes]
rs3730262	0.82[ASN][1000 genomes]
rs41275746	0.92[ASN][1000 genomes]
rs41275748	0.92[ASN][1000 genomes]
rs41275750	0.92[ASN][1000 genomes]
rs58094119	0.92[ASN][1000 genomes]
rs60568017	0.92[EUR][1000 genomes]
rs7247515	0.92[ASN][1000 genomes]
rs7252506	0.90[ASN][1000 genomes]
rs73933225	0.92[ASN][1000 genomes]
rs73933232	0.84[ASN][1000 genomes]
rs73933236	0.84[ASN][1000 genomes]
rs73933237	0.84[ASN][1000 genomes]
rs73933238	0.84[ASN][1000 genomes]
rs873143	0.84[ASN][1000 genomes]
rs874269	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
2	chr19:40713200-40725200	Weak transcription	Hela-S3	cervix
3	chr19:40718600-40725200	Weak transcription	Dnd41	blood
4	chr19:40722000-40723800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:40722200-40724200	Enhancers	Lung	lung
6	chr19:40722200-40724400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:40722200-40724600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr19:40722400-40723800	Bivalent Enhancer	Placenta	Placenta
9	chr19:40722400-40724200	Enhancers	Pancreas	Pancrea
10	chr19:40722400-40724400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:40722600-40723800	Enhancers	Esophagus	oesophagus
12	chr19:40722600-40723800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr19:40722600-40724200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:40722800-40724200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:40722800-40724200	Bivalent Enhancer	Spleen	Spleen
16	chr19:40722800-40724400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr19:40722800-40724600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr19:40723000-40723800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr19:40723000-40723800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:40723000-40723800	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr19:40723000-40723800	Bivalent Enhancer	A549	lung
22	chr19:40723000-40724000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr19:40723000-40724000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:40723000-40724200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:40723000-40724200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:40723000-40724200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:40723200-40723800	Enhancers	Gastric	stomach
28	chr19:40723200-40724000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr19:40723200-40724400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr19:40723400-40723800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:40723400-40723800	Flanking Active TSS	Fetal Brain Female	brain
32	chr19:40723400-40723800	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr19:40723400-40723800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr19:40723400-40723800	Bivalent Enhancer	Fetal Thymus	thymus
35	chr19:40723400-40723800	Bivalent Enhancer	Right Ventricle	heart
36	chr19:40723400-40724000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:40723400-40724200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:40723400-40724200	Bivalent/Poised TSS	HepG2	liver
39	chr19:40723400-40724400	Active TSS	Brain Angular Gyrus	brain
40	chr19:40723400-40724400	Enhancers	Fetal Brain Male	brain
41	chr19:40723400-40724600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:40723400-40724800	Active TSS	Brain Cingulate Gyrus	brain
43	chr19:40723600-40723800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr19:40723600-40723800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:40723600-40724000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:40723600-40724000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:40723600-40724200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr19:40723600-40724400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:40723600-40724400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:40723600-40724400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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