Variant report

Variant	rs11723050
Chromosome Location	chr4:121814232-121814233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11737173	0.88[ASN][1000 genomes]
rs13149200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376102	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470696	0.86[CHB][hapmap]
rs1588521	0.86[CHB][hapmap]
rs2053875	0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2892917	0.86[CHB][hapmap]
rs3099888	0.87[CHB][hapmap]
rs343201	0.82[CHB][hapmap]
rs34623744	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34640899	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804178	0.87[CHB][hapmap]
rs7675777	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv980152	chr4:121807702-121817738	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11723050	TNIP3	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121797000-121823800	Weak transcription	Osteobl	bone
3	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121801200-121814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
7	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
8	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
10	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:121812800-121823000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
17	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:121813200-121824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:121813400-121814600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:121813600-121814600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:121813600-121814600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:121813600-121814600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:121813600-121814600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr4:121813600-121814600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr4:121813600-121814800	Strong transcription	Fetal Lung	lung
29	chr4:121813600-121815600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:121813600-121824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:121813600-121839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:121813800-121814600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:121813800-121814600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:121813800-121814600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:121813800-121814600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:121813800-121814600	ZNF genes & repeats	Fetal Stomach	stomach
37	chr4:121813800-121814600	Strong transcription	Ovary	ovary
38	chr4:121813800-121814600	Strong transcription	Right Ventricle	heart
39	chr4:121813800-121815200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:121813800-121842400	Weak transcription	NHEK	skin
41	chr4:121814000-121814600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:121814000-121814600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:121814000-121814600	Strong transcription	Fetal Intestine Large	intestine
44	chr4:121814000-121814600	ZNF genes & repeats	Lung	lung
45	chr4:121814000-121815000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:121814200-121814600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:121814200-121839800	Weak transcription	Pancreas	Pancrea

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