Variant report

Variant	rs13108799
Chromosome Location	chr4:48665612-48665613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10003273	0.83[AMR][1000 genomes]
rs10008265	0.83[AMR][1000 genomes]
rs10049761	0.84[AMR][1000 genomes]
rs13113370	0.80[AMR][1000 genomes]
rs13119504	0.86[AMR][1000 genomes]
rs1554256	0.80[AMR][1000 genomes]
rs1554258	0.83[AMR][1000 genomes]
rs1589107	0.80[AMR][1000 genomes]
rs2354312	0.86[AMR][1000 genomes]
rs6447651	0.80[AMR][1000 genomes]
rs6814811	0.83[AMR][1000 genomes]
rs6818954	0.88[AMR][1000 genomes]
rs7660206	0.80[AMR][1000 genomes]
rs7667288	0.83[AMR][1000 genomes]
rs7682859	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
4	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:48653000-48666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:48653000-48667600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:48653200-48665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:48653400-48669200	Weak transcription	Gastric	stomach
10	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:48656200-48667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:48656200-48670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:48656600-48665800	Weak transcription	NHEK	skin
15	chr4:48656600-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:48656600-48667600	Weak transcription	Left Ventricle	heart
17	chr4:48656600-48667800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:48656600-48667800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:48656600-48667800	Weak transcription	Psoas Muscle	Psoas
20	chr4:48656600-48669800	Weak transcription	Esophagus	oesophagus
21	chr4:48656600-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:48657000-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:48657000-48666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:48657400-48667000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:48657400-48667800	Weak transcription	Aorta	Aorta
27	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
29	chr4:48657600-48666000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:48657600-48666000	Weak transcription	Dnd41	blood
31	chr4:48657600-48667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:48657600-48667600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:48662600-48665800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:48662600-48666600	Weak transcription	Brain Substantia Nigra	brain
36	chr4:48662600-48667600	Weak transcription	Small Intestine	intestine
37	chr4:48663600-48666200	Weak transcription	Stomach Mucosa	stomach
38	chr4:48663600-48667600	Weak transcription	K562	blood
39	chr4:48663600-48668600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:48663600-48669800	Weak transcription	Colonic Mucosa	Colon
41	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:48663800-48670400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:48664000-48666000	Weak transcription	HMEC	breast
44	chr4:48664200-48666200	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:48664200-48667600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr4:48664400-48666800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:48664400-48667600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:48664400-48669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:48664400-48683200	Weak transcription	Ovary	ovary
50	chr4:48664600-48666200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links