Variant report

Variant	rs872479
Chromosome Location	chr4:16504082-16504083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1354079	0.85[ASN][1000 genomes]
rs1392894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1392897	0.85[ASN][1000 genomes]
rs1501141	0.90[ASN][1000 genomes]
rs3805319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6449258	0.84[ASN][1000 genomes]
rs6814110	0.85[ASN][1000 genomes]
rs976362	0.86[ASN][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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv428755	chr4:16366311-16528135	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs872479	QDPR	cis	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16495000-16504200	Weak transcription	Fetal Brain Male	brain
2	chr4:16496600-16508600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:16498400-16513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:16498400-16518200	Weak transcription	Brain Angular Gyrus	brain
5	chr4:16498600-16509000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:16498800-16508000	Weak transcription	NHLF	lung
7	chr4:16498800-16509000	Weak transcription	Osteobl	bone
8	chr4:16500600-16507200	Weak transcription	HUVEC	blood vessel
9	chr4:16501200-16509000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:16501200-16509400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:16501400-16510800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:16501400-16511400	Weak transcription	Gastric	stomach
13	chr4:16501600-16505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:16501600-16508800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:16502200-16510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:16502200-16512200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:16502400-16510800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr4:16502600-16504600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:16502800-16504400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:16502800-16511400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:16502800-16512200	Weak transcription	Pancreas	Pancrea
22	chr4:16503000-16504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:16503000-16504200	Weak transcription	Fetal Stomach	stomach
24	chr4:16503000-16504200	Weak transcription	Left Ventricle	heart
25	chr4:16503000-16504400	Weak transcription	Esophagus	oesophagus
26	chr4:16503000-16508400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:16503000-16510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:16503000-16510800	Weak transcription	Fetal Lung	lung
29	chr4:16503000-16511200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:16503000-16511400	Weak transcription	Right Ventricle	heart
31	chr4:16503000-16513000	Weak transcription	Primary T cells from cord blood	blood
32	chr4:16503200-16504200	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:16503200-16504200	Weak transcription	Lung	lung
34	chr4:16503200-16504200	Weak transcription	Ovary	ovary
35	chr4:16503200-16504200	Weak transcription	Spleen	Spleen
36	chr4:16503200-16504600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:16503200-16506800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:16503200-16509000	Weak transcription	Liver	Liver
39	chr4:16503200-16509200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:16503200-16509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:16503200-16510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:16503200-16510800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:16503200-16518400	Weak transcription	Brain Substantia Nigra	brain
44	chr4:16503400-16506600	Strong transcription	Adipose Nuclei	Adipose
45	chr4:16503400-16510200	Weak transcription	Fetal Kidney	kidney
46	chr4:16503600-16505200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:16504000-16504800	Enhancers	Fetal Brain Female	brain
48	chr4:16504000-16508800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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