Variant report

Variant	rs7297713
Chromosome Location	chr12:117626409-117626410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774905	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10850774	0.86[ASN][1000 genomes]
rs10850799	0.84[EUR][1000 genomes]
rs2088699	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279766	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4492907	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766831	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767502	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767505	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767512	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767514	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767515	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767518	0.84[EUR][1000 genomes]
rs6490117	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67383912	0.82[EUR][1000 genomes]
rs7298778	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307866	0.81[ASN][1000 genomes]
rs7313745	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953808	0.88[ASN][1000 genomes]
rs7957758	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959489	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv560346	chr12:117623651-117642113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv560347	chr12:117623651-117643067	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7297713	FBXO21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
4	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
5	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
6	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
9	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
10	chr12:117620400-117626600	Weak transcription	Pancreas	Pancrea
11	chr12:117620400-117626800	Weak transcription	Gastric	stomach
12	chr12:117620800-117626600	Weak transcription	Spleen	Spleen
13	chr12:117621000-117626600	Weak transcription	Stomach Mucosa	stomach
14	chr12:117621400-117626800	Weak transcription	Aorta	Aorta
15	chr12:117621600-117626600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117622400-117626800	Weak transcription	NHDF-Ad	bronchial
17	chr12:117622600-117626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:117622600-117626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:117622600-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:117622600-117627000	Weak transcription	Thymus	Thymus
21	chr12:117622800-117626600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:117622800-117626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:117622800-117626600	Weak transcription	Left Ventricle	heart
24	chr12:117622800-117626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117622800-117627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:117623200-117626600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:117623200-117627000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:117623400-117626600	Weak transcription	HSMM	muscle
29	chr12:117623400-117626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:117623400-117626800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:117623400-117626800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:117623400-117626800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:117623600-117626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:117623600-117626600	Weak transcription	HMEC	breast
35	chr12:117623600-117626600	Weak transcription	HUVEC	blood vessel
36	chr12:117624200-117627000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:117624400-117626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:117624400-117626600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:117624400-117626600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:117624400-117626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:117624400-117626600	Weak transcription	Fetal Intestine Large	intestine
42	chr12:117624400-117626600	Weak transcription	Fetal Thymus	thymus
43	chr12:117624400-117626600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:117624400-117626600	Weak transcription	K562	blood
45	chr12:117624400-117626800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:117624400-117626800	Weak transcription	HSMMtube	muscle
47	chr12:117624600-117626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:117624600-117626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:117624600-117626600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:117624600-117626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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