Variant report

Variant	rs7316144
Chromosome Location	chr12:117407500-117407501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117405576..117408007-chr12:117626916..117629267,2	MCF-7	breast:
2	chr12:117406724..117409328-chr12:117437750..117440226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10507277	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507278	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs10732611	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10735099	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10735102	0.93[CEU][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10744885	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744886	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774891	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10774892	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774893	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774896	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10850731	0.92[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10850737	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850741	0.83[EUR][1000 genomes]
rs10850743	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850744	0.85[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap]
rs11068247	0.84[JPT][hapmap]
rs11068258	0.85[JPT][hapmap]
rs11068262	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11068264	0.93[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068277	0.93[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068280	0.91[JPT][hapmap]
rs11068282	0.84[JPT][hapmap]
rs11068286	0.84[JPT][hapmap]
rs11068292	0.82[YRI][hapmap]
rs11068296	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609970	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12299065	0.81[EUR][1000 genomes]
rs12821492	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12823620	0.87[AMR][1000 genomes]
rs17583145	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs17616662	0.85[JPT][hapmap]
rs2242469	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270794	0.82[EUR][1000 genomes]
rs2393110	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2393111	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803089	0.85[JPT][hapmap]
rs3893370	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4076700	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077519	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4130296	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4299000	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324001	0.81[ASN][1000 genomes]
rs4347476	0.85[JPT][hapmap]
rs4522274	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4542506	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562925	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562927	0.93[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4766812	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766814	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766815	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766818	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766820	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766821	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766822	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767474	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767476	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767478	0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767480	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767483	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767484	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767485	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767487	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767488	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767489	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767490	0.83[EUR][1000 genomes]
rs4767491	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767493	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60940473	0.81[EUR][1000 genomes]
rs6490097	0.81[ASN][1000 genomes]
rs6490102	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7131746	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133066	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7136629	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7137006	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7137752	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297155	0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297848	0.93[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7298447	0.81[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302025	0.81[EUR][1000 genomes]
rs7303882	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308498	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308734	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311972	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403241	0.94[EUR][1000 genomes]
rs7484620	0.86[ASN][1000 genomes]
rs7487081	1.00[JPT][hapmap]
rs7952766	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954824	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957907	0.81[EUR][1000 genomes]
rs7958030	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959666	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962339	0.90[EUR][1000 genomes]
rs7973240	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7976815	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7977598	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9804817	0.81[EUR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7316144	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
5	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
8	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117387800-117463600	Weak transcription	HMEC	breast
10	chr12:117393000-117407600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
12	chr12:117394600-117415400	Weak transcription	HSMMtube	muscle
13	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
14	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
15	chr12:117397200-117410400	Weak transcription	Pancreas	Pancrea
16	chr12:117398000-117409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:117398200-117417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:117400400-117412000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:117400400-117417800	Weak transcription	K562	blood
20	chr12:117400600-117407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:117400800-117415400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:117401000-117409000	Weak transcription	GM12878-XiMat	blood
23	chr12:117401400-117407800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:117401400-117408000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117401400-117408200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:117401600-117408400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:117401600-117408400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:117401600-117408800	Strong transcription	Primary T cells from cord blood	blood
29	chr12:117402000-117407600	Strong transcription	Fetal Intestine Large	intestine
30	chr12:117402000-117408000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:117402200-117408000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:117402200-117408200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:117402200-117408400	Strong transcription	Placenta	Placenta
34	chr12:117402200-117417200	Weak transcription	Stomach Mucosa	stomach
35	chr12:117402400-117407800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:117402400-117408200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:117402600-117407600	Weak transcription	Brain Substantia Nigra	brain
38	chr12:117402600-117411200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:117402800-117408200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:117403000-117407600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:117403000-117412200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:117403400-117407800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117403400-117410400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:117403400-117416800	Weak transcription	HUVEC	blood vessel
45	chr12:117403400-117418000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:117403400-117423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:117403600-117410600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:117403600-117413200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:117403600-117420400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:117404400-117409200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links