Variant report

Variant	rs12147448
Chromosome Location	chr14:65381764-65381765
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64853920..64855626-chr14:65380962..65383011,2	MCF-7	breast:
2	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
3	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
4	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
5	chr14:65381095..65382725-chr14:65453656..65455221,2	MCF-7	breast:
6	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
7	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
8	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
9	chr14:65381042..65382655-chr14:65437640..65439751,2	MCF-7	breast:
10	chr14:65381122..65381857-chr6:27115142..27115830,2	Hela-S3	cervix:
11	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:
12	chr1:149223877..149224802-chr14:65381141..65381894,2	NB4	blood:
13	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:
14	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
15	chr14:65133710..65135609-chr14:65381546..65383750,2	MCF-7	breast:
16	chr14:65381530..65387972-chr14:65390181..65394582,7	K562	blood:
17	chr14:65380374..65382697-chr14:65453453..65455560,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000252497	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000176153	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1003370	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10151551	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10162522	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs1122339	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11844283	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17093568	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1951489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957420	0.83[ASN][1000 genomes]
rs1957422	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957430	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1957433	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1983769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016653	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2104170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs230722	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2884307	0.81[ASN][1000 genomes]
rs35179634	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs368818	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs374461	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs375797	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs378391	1.00[CEU][hapmap]
rs3813424	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs389370	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs395112	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs397901	0.82[EUR][1000 genomes]
rs399508	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs406811	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs424222	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs426044	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs435006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs4899150	0.87[YRI][hapmap]
rs4899151	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902323	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs4902324	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs4902327	0.83[ASW][hapmap]
rs55983720	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58989463	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989891	0.82[EUR][1000 genomes]
rs6573584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149121	0.82[EUR][1000 genomes]
rs7149446	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158624	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72625650	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs762072	0.82[EUR][1000 genomes]
rs8008229	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013371	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8022462	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs9323456	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12147448	MARCO	trans	brain	seeQTL
rs12147448	SCGB2A2	trans	brain	seeQTL
rs12147448	C14orf52	cis	multi-tissue	Pritchard
rs12147448	SCGB1D2	trans	brain	seeQTL
rs12147448	CHURC1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65380400-65381800	Active TSS	Brain Cingulate Gyrus	brain
2	chr14:65380400-65381800	Active TSS	Stomach Smooth Muscle	stomach
3	chr14:65380400-65382000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:65380400-65382000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65380600-65381800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr14:65380600-65381800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:65380600-65381800	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr14:65380600-65381800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:65380600-65381800	Active TSS	Brain Angular Gyrus	brain
10	chr14:65380600-65381800	Active TSS	Brain Germinal Matrix	brain
11	chr14:65380600-65381800	Active TSS	Brain Hippocampus Middle	brain
12	chr14:65380600-65381800	Active TSS	Brain Substantia Nigra	brain
13	chr14:65380600-65381800	Active TSS	Colon Smooth Muscle	Colon
14	chr14:65380600-65381800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:65380600-65381800	Active TSS	Fetal Brain Male	brain
16	chr14:65380600-65381800	Active TSS	Fetal Kidney	kidney
17	chr14:65380600-65381800	Active TSS	Fetal Muscle Trunk	muscle
18	chr14:65380600-65381800	Active TSS	Fetal Stomach	stomach
19	chr14:65380600-65381800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:65380600-65381800	Active TSS	Right Atrium	heart
21	chr14:65380600-65381800	Active TSS	Right Ventricle	heart
22	chr14:65380600-65382000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:65380600-65382000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:65380600-65382000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:65380600-65382000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:65380600-65382000	Active TSS	Aorta	Aorta
29	chr14:65380600-65382000	Active TSS	Brain Anterior Caudate	brain
30	chr14:65380600-65382000	Active TSS	NHDF-Ad	bronchial
31	chr14:65380600-65382000	Active TSS	NHLF	lung
32	chr14:65380600-65382200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr14:65380600-65382200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:65380600-65382200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr14:65380600-65382200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr14:65380600-65382200	Active TSS	Ovary	ovary
37	chr14:65380600-65382400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:65380600-65382400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:65380600-65382400	Active TSS	GM12878-XiMat	blood
40	chr14:65380600-65382400	Active TSS	K562	blood
41	chr14:65380600-65382800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:65380800-65381800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:65380800-65381800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:65380800-65381800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65380800-65381800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:65380800-65381800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:65380800-65381800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:65380800-65381800	Active TSS	Colonic Mucosa	Colon
49	chr14:65380800-65381800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr14:65380800-65381800	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links