Variant report

Variant	rs11878290
Chromosome Location	chr19:21739190-21739191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10426240	1.00[AMR][1000 genomes]
rs11878313	1.00[AMR][1000 genomes]
rs11878341	1.00[AMR][1000 genomes]
rs11878352	1.00[AMR][1000 genomes]
rs11878379	1.00[AMR][1000 genomes]
rs11878890	1.00[AMR][1000 genomes]
rs11879116	1.00[AMR][1000 genomes]
rs11879186	1.00[AMR][1000 genomes]
rs11880052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880057	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880270	1.00[AMR][1000 genomes]
rs11880290	1.00[AMR][1000 genomes]
rs11880668	1.00[AMR][1000 genomes]
rs11880717	1.00[AMR][1000 genomes]
rs11882098	1.00[AMR][1000 genomes]
rs11882885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882927	1.00[AMR][1000 genomes]
rs11883296	1.00[AMR][1000 genomes]
rs1500399	1.00[AMR][1000 genomes]
rs2013529	1.00[AMR][1000 genomes]
rs2173725	1.00[AMR][1000 genomes]
rs2562418	1.00[AMR][1000 genomes]
rs2562423	1.00[AMR][1000 genomes]
rs2562426	1.00[AMR][1000 genomes]
rs2650761	1.00[AMR][1000 genomes]
rs2650762	1.00[AMR][1000 genomes]
rs2650765	1.00[AMR][1000 genomes]
rs2650795	1.00[AMR][1000 genomes]
rs2650813	1.00[AMR][1000 genomes]
rs28581819	1.00[AMR][1000 genomes]
rs34447812	1.00[AMR][1000 genomes]
rs34475475	1.00[AMR][1000 genomes]
rs34713529	1.00[AMR][1000 genomes]
rs34806732	1.00[AMR][1000 genomes]
rs35147475	1.00[AMR][1000 genomes]
rs35678983	1.00[AMR][1000 genomes]
rs36151394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36168893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6511266	1.00[AMR][1000 genomes]
rs72620584	1.00[AMR][1000 genomes]
rs7343074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7343111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7343124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7343143	1.00[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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
4	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
5	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers 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	31 gene(s)	inside rSNPs	diseases
6	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv543942	chr19:21711611-21767567	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv543943	chr19:21713945-21759080	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv543944	chr19:21713945-21767567	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv543945	chr19:21717518-21767567	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21720400-21740800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr19:21726400-21740800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:21726600-21740800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:21735800-21741600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:21735800-21744800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:21736200-21741400	ZNF genes & repeats	Liver	Liver
7	chr19:21736400-21743000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:21737200-21743000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:21737200-21747200	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr19:21737400-21739400	ZNF genes & repeats	Fetal Lung	lung
11	chr19:21737400-21739400	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:21737400-21739600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr19:21737800-21739800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:21738000-21739400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr19:21738000-21749400	Weak transcription	Left Ventricle	heart
16	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:21738200-21739200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr19:21738200-21739400	Strong transcription	Brain Hippocampus Middle	brain
19	chr19:21738600-21740200	Weak transcription	Fetal Kidney	kidney
20	chr19:21738600-21740600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:21738600-21742400	Weak transcription	Right Ventricle	heart
22	chr19:21738600-21751600	Weak transcription	Osteobl	bone
23	chr19:21738800-21740200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:21738800-21740200	Weak transcription	Ovary	ovary
25	chr19:21738800-21740800	Weak transcription	Thymus	Thymus
26	chr19:21738800-21741200	Weak transcription	Aorta	Aorta
27	chr19:21738800-21742200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:21738800-21746000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:21738800-21746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:21739000-21739400	ZNF genes & repeats	Dnd41	blood
31	chr19:21739000-21742800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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