Variant report

Variant	rs2619823
Chromosome Location	chr19:21482324-21482325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs472472	0.86[ASN][1000 genomes]
rs489613	0.81[ASN][1000 genomes]
rs489845	0.81[ASN][1000 genomes]
rs492271	0.82[ASN][1000 genomes]
rs499445	0.82[ASN][1000 genomes]
rs501563	0.82[ASN][1000 genomes]
rs516519	0.83[ASN][1000 genomes]
rs527060	0.81[ASN][1000 genomes]
rs547516	0.84[ASN][1000 genomes]
rs555596	0.82[ASN][1000 genomes]
rs586144	0.87[ASN][1000 genomes]
rs598959	0.81[ASN][1000 genomes]
rs600186	0.87[ASN][1000 genomes]
rs631436	0.82[ASN][1000 genomes]
rs632221	0.85[ASN][1000 genomes]
rs651454	0.82[ASN][1000 genomes]
rs8112775	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv911415	chr19:21388995-21487170	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv911419	chr19:21391844-21487170	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21465400-21484600	ZNF genes & repeats	Liver	Liver
3	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:21470600-21484200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:21472200-21487600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:21472200-21490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21473600-21487200	Weak transcription	Right Ventricle	heart
8	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
9	chr19:21474000-21490600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:21474400-21492400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
12	chr19:21475200-21483600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:21475200-21484000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:21475200-21484200	Weak transcription	Fetal Thymus	thymus
15	chr19:21475200-21485400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:21476000-21490400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr19:21476000-21490400	Weak transcription	Hela-S3	cervix
19	chr19:21476200-21488200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:21476800-21487200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:21476800-21497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:21477000-21494400	Weak transcription	Stomach Mucosa	stomach
23	chr19:21477200-21495000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:21477400-21483800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:21477600-21484200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:21477600-21484400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:21477600-21495800	Weak transcription	HepG2	liver
28	chr19:21478000-21482400	Weak transcription	HUVEC	blood vessel
29	chr19:21478000-21484200	Weak transcription	Brain Germinal Matrix	brain
30	chr19:21478000-21484200	Weak transcription	Colonic Mucosa	Colon
31	chr19:21478000-21497400	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:21478200-21482400	Weak transcription	HSMMtube	muscle
33	chr19:21478200-21483600	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:21478200-21483600	Weak transcription	Fetal Brain Female	brain
35	chr19:21478200-21487000	Weak transcription	Brain Substantia Nigra	brain
36	chr19:21478200-21487200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:21478200-21492600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:21478400-21483400	Weak transcription	Ovary	ovary
39	chr19:21478400-21500600	Weak transcription	Psoas Muscle	Psoas
40	chr19:21478600-21483800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:21478600-21484000	Weak transcription	Fetal Kidney	kidney
42	chr19:21478600-21490600	Strong transcription	Fetal Lung	lung
43	chr19:21478600-21499200	Weak transcription	HMEC	breast
44	chr19:21478800-21484200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:21479200-21483600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:21479200-21484000	Weak transcription	Gastric	stomach
47	chr19:21479400-21482400	Weak transcription	Lung	lung
48	chr19:21479400-21482800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:21479400-21483800	Weak transcription	Osteobl	bone
50	chr19:21479600-21482800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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