Variant report

Variant	rs4767514
Chromosome Location	chr12:117619568-117619569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117616880..117620516-chr12:117626730..117630376,5	K562	blood:
2	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
3	chr12:117618719..117620255-chr12:117621421..117622933,2	MCF-7	breast:
4	chr12:117619225..117621566-chr12:117623434..117626120,2	MCF-7	breast:
5	chr12:117610469..117613124-chr12:117617825..117619883,2	MCF-7	breast:
6	chr12:117612768..117619869-chr12:117625654..117629590,13	MCF-7	breast:
7	chr12:117615421..117617257-chr12:117618416..117620789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10774905	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10850774	0.90[ASN][1000 genomes]
rs10850777	0.80[EUR][1000 genomes]
rs10850782	0.81[EUR][1000 genomes]
rs10850786	0.81[EUR][1000 genomes]
rs10850790	0.81[EUR][1000 genomes]
rs10850799	0.89[EUR][1000 genomes]
rs12304875	0.81[EUR][1000 genomes]
rs2036311	0.80[EUR][1000 genomes]
rs2036312	0.82[EUR][1000 genomes]
rs2062518	0.80[EUR][1000 genomes]
rs2062530	0.80[EUR][1000 genomes]
rs2088699	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279766	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238053	0.80[EUR][1000 genomes]
rs4492907	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766831	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766834	0.83[EUR][1000 genomes]
rs4767502	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767505	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767511	0.80[EUR][1000 genomes]
rs4767512	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767515	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767518	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767519	0.85[EUR][1000 genomes]
rs6490117	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67383912	0.88[EUR][1000 genomes]
rs7297713	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298778	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307866	0.84[ASN][1000 genomes]
rs7313745	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953808	0.92[ASN][1000 genomes]
rs7957758	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959489	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4767514	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	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:117589400-117623600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:117590800-117619600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:117590800-117623400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
23	chr12:117591000-117620200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:117591000-117624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:117593800-117625000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:117593800-117625600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:117593800-117625600	Strong transcription	Placenta	Placenta
28	chr12:117593800-117625800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:117594000-117625800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:117597600-117624400	Strong transcription	Fetal Intestine Large	intestine
31	chr12:117598600-117624600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:117601000-117620600	Weak transcription	Stomach Mucosa	stomach
33	chr12:117602200-117624600	Strong transcription	Primary B cells from cord blood	blood
34	chr12:117603400-117624600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:117607000-117619600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:117607800-117624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:117607800-117624600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:117608400-117624600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr12:117608600-117622400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:117609800-117623200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:117609800-117624800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:117610800-117624400	Strong transcription	Liver	Liver
43	chr12:117611800-117620000	Strong transcription	Hela-S3	cervix
44	chr12:117613400-117623000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
46	chr12:117613600-117626400	Weak transcription	NHLF	lung
47	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
48	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
49	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:117614600-117620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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