Variant report

Variant	rs72480748
Chromosome Location	chr19:41414481-41414482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12150973	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12151139	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2161245	0.85[ASN][1000 genomes]
rs28417358	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4001944	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4609955	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56129017	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57274441	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73034462	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73034465	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8100418	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv3337314	chr19:41388910-41534583	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv437830	chr19:41408746-41515702	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41413600-41415400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:41413800-41414800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:41413800-41415200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr19:41414000-41414600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:41414000-41414600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:41414000-41414600	Active TSS	Primary hematopoietic stem cells	blood
7	chr19:41414000-41414600	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr19:41414000-41414800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:41414200-41414600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr19:41414200-41414600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr19:41414200-41414600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr19:41414200-41414600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr19:41414200-41414600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr19:41414200-41414600	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr19:41414200-41414600	Enhancers	Lung	lung
16	chr19:41414200-41414600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:41414200-41414800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:41414200-41414800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:41414200-41414800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:41414200-41414800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr19:41414200-41415000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:41414400-41414600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:41414400-41414600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:41414400-41414600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr19:41414400-41414600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr19:41414400-41414600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:41414400-41414600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr19:41414400-41414600	Enhancers	Gastric	stomach
29	chr19:41414400-41414600	Bivalent/Poised TSS	A549	lung
30	chr19:41414400-41414600	Active TSS	GM12878-XiMat	blood
31	chr19:41414400-41414800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr19:41414400-41414800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:41414400-41414800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41414400-41414800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:41414400-41414800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:41414400-41414800	Enhancers	Pancreas	Pancrea
37	chr19:41414400-41414800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:41414400-41415000	Active TSS	Primary B cells from cord blood	blood
39	chr19:41414400-41415000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr19:41414400-41415000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:41414400-41415000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:41414400-41415000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr19:41414400-41415000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr19:41414400-41415000	Flanking Active TSS	K562	blood
45	chr19:41414400-41415200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr19:41414400-41415400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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