Variant report

Variant	rs58095420
Chromosome Location	chr19:21371884-21371885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11881107	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12052171	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12151204	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16997503	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997512	1.00[ASN][1000 genomes]
rs17445374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17445381	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17447970	1.00[ASN][1000 genomes]
rs57941450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59436607	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60870377	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67716442	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256860	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73028563	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73028565	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73028577	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs995655	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:21363800-21372000	Weak transcription	Gastric	stomach
3	chr19:21363800-21374000	Weak transcription	Pancreas	Pancrea
4	chr19:21365200-21373200	Strong transcription	HSMM	muscle
5	chr19:21365800-21374400	Weak transcription	Hela-S3	cervix
6	chr19:21366400-21380400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21367000-21377200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:21367000-21377800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:21367000-21379200	Weak transcription	Ovary	ovary
10	chr19:21367000-21380600	Weak transcription	Placenta	Placenta
11	chr19:21367200-21374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:21367200-21374400	Weak transcription	Fetal Muscle Leg	muscle
13	chr19:21367200-21375600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:21367200-21377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:21367200-21377600	Weak transcription	Left Ventricle	heart
16	chr19:21367400-21372200	Weak transcription	NH-A	brain
17	chr19:21367400-21379800	Weak transcription	K562	blood
18	chr19:21367800-21373800	Weak transcription	HSMMtube	muscle
19	chr19:21368400-21372000	Weak transcription	Primary B cells from cord blood	blood
20	chr19:21368400-21373200	Weak transcription	Primary T cells from cord blood	blood
21	chr19:21368600-21374600	Weak transcription	Fetal Brain Female	brain
22	chr19:21368600-21374600	Weak transcription	Fetal Lung	lung
23	chr19:21368600-21378000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:21368800-21372000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:21369000-21372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:21369000-21375800	Weak transcription	Fetal Stomach	stomach
27	chr19:21369200-21372400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr19:21369200-21373200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:21369200-21375200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:21369400-21374200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:21369400-21374600	Weak transcription	Brain Germinal Matrix	brain
32	chr19:21369600-21377600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:21369800-21372200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:21370000-21372200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:21370000-21372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:21370000-21380000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:21370200-21372800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:21370200-21374400	Weak transcription	Thymus	Thymus
40	chr19:21370200-21377600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:21370600-21374000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:21370600-21374400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:21370600-21377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:21370600-21380600	Weak transcription	Fetal Intestine Small	intestine
46	chr19:21370800-21378800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:21371000-21372000	Weak transcription	Lung	lung
48	chr19:21371000-21373400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21371000-21373800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:21371000-21373800	Weak transcription	Esophagus	oesophagus

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