Variant report

Variant	rs396063
Chromosome Location	chr19:44425274-44425275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs239941	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs239945	1.00[AFR][1000 genomes]
rs386662	0.83[AFR][1000 genomes]
rs400319	1.00[AFR][1000 genomes]
rs408926	0.91[AFR][1000 genomes]
rs420242	0.91[AFR][1000 genomes]
rs424364	1.00[EUR][1000 genomes]
rs431247	0.91[AFR][1000 genomes]
rs432559	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs443524	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs444350	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7254658	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
2	chr19:44406800-44427400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44407400-44427600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44412400-44426000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44414200-44431400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44415600-44426800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:44416000-44426200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:44416200-44426000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:44416200-44427400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:44416600-44429400	ZNF genes & repeats	A549	lung
12	chr19:44416800-44427400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:44417000-44425600	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr19:44417000-44429600	ZNF genes & repeats	GM12878-XiMat	blood
15	chr19:44417000-44437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:44417200-44425400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:44417200-44425400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:44417200-44426400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
19	chr19:44417200-44426800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
20	chr19:44417400-44425400	ZNF genes & repeats	Aorta	Aorta
21	chr19:44417400-44425400	ZNF genes & repeats	Lung	lung
22	chr19:44417400-44425400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr19:44417400-44425400	ZNF genes & repeats	Spleen	Spleen
24	chr19:44417400-44426600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:44417400-44427800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:44417600-44425400	ZNF genes & repeats	Ovary	ovary
27	chr19:44417600-44425800	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr19:44417600-44426800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr19:44417800-44425400	ZNF genes & repeats	Small Intestine	intestine
30	chr19:44418400-44432600	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:44418600-44431600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:44418600-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:44418800-44431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:44419400-44431600	Strong transcription	Right Ventricle	heart
35	chr19:44419400-44438600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr19:44420000-44435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:44420000-44437200	Strong transcription	Placenta	Placenta
38	chr19:44420000-44437400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:44420000-44437800	Strong transcription	HSMM	muscle
40	chr19:44420200-44425800	Weak transcription	Fetal Heart	heart
41	chr19:44420200-44428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:44420200-44437200	Strong transcription	HSMMtube	muscle
43	chr19:44420200-44437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:44420400-44426800	Strong transcription	NHDF-Ad	bronchial
45	chr19:44420400-44437400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:44420400-44438600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:44420600-44437000	Strong transcription	Dnd41	blood
48	chr19:44420600-44437200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:44420600-44437200	Strong transcription	Fetal Thymus	thymus
50	chr19:44420600-44437400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links