Variant report

Variant	rs4151420
Chromosome Location	chr13:48879399-48879400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr13:48877260-48879409	GM12878	blood:	n/a	chr13:48878320-48878330
2	POLR2A	chr13:48876411-48880767	GM12891	blood:	n/a	n/a
3	POLR2A	chr13:48877175-48879540	GM19193	blood:	n/a	n/a
4	POLR2A	chr13:48876695-48879724	GM19099	blood:	n/a	n/a
5	IRF1	chr13:48879381-48879495	K562	blood:	n/a	n/a
6	POLR2A	chr13:48877212-48879463	GM12878	blood:	n/a	n/a
7	CHD1	chr13:48876892-48879464	IMR90	lung:	n/a	chr13:48878297-48878307

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48806625..48809806-chr13:48877426..48879405,3	K562	blood:
2	chr13:48879143..48880782-chr13:48887073..48889128,2	K562	blood:

Variant related genes	Relation type
LINC00441	TF binding region
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs174858	1.00[CEU][hapmap]
rs198580	1.00[CEU][hapmap]
rs198582	1.00[CEU][hapmap]
rs198589	1.00[CEU][hapmap]
rs2156910	1.00[CEU][hapmap]
rs367438	1.00[CEU][hapmap]
rs4151421	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151424	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151426	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151445	1.00[EUR][1000 genomes]
rs4151463	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151469	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151475	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151480	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151484	0.86[EUR][1000 genomes]
rs4151498	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151505	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151529	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151536	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151555	1.00[EUR][1000 genomes]
rs4151560	1.00[EUR][1000 genomes]
rs4151564	1.00[EUR][1000 genomes]
rs4151567	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151569	0.86[EUR][1000 genomes]
rs4151578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151610	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4151615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449151	1.00[CEU][hapmap]
rs449268	1.00[CEU][hapmap]
rs7325162	1.00[EUR][1000 genomes]
rs7326934	1.00[CEU][hapmap]
rs73490887	0.86[EUR][1000 genomes]
rs9331953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9331968	1.00[EUR][1000 genomes]
rs9331980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9331999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332037	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332049	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332253	0.83[EUR][1000 genomes]
rs9332258	0.83[EUR][1000 genomes]
rs9332273	0.83[EUR][1000 genomes]
rs9332280	1.00[CEU][hapmap]
rs9332282	0.83[EUR][1000 genomes]
rs9332303	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437840	chr13:48876976-48879524	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48876600-48879400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr13:48876800-48879400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:48876800-48879400	Active TSS	Colonic Mucosa	Colon
4	chr13:48876800-48879400	Active TSS	A549	lung
5	chr13:48876800-48879800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:48876800-48880000	Active TSS	K562	blood
7	chr13:48876800-48880200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:48877000-48879600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:48877000-48879600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:48877000-48879600	Active TSS	Psoas Muscle	Psoas
11	chr13:48877000-48879600	Active TSS	Right Ventricle	heart
12	chr13:48877000-48879800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:48877000-48879800	Active TSS	Fetal Muscle Leg	muscle
14	chr13:48877000-48879800	Active TSS	Right Atrium	heart
15	chr13:48877000-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:48877000-48880000	Active TSS	HSMMtube	muscle
17	chr13:48877000-48880200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr13:48877000-48880200	Active TSS	NHLF	lung
19	chr13:48877200-48879400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:48877200-48879400	Active TSS	Brain Substantia Nigra	brain
21	chr13:48877200-48879400	Active TSS	Fetal Muscle Trunk	muscle
22	chr13:48877200-48879400	Active TSS	Left Ventricle	heart
23	chr13:48877200-48879400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr13:48877200-48879600	Active TSS	Ovary	ovary
25	chr13:48877200-48879600	Active TSS	HSMM	muscle
26	chr13:48877200-48879800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48877200-48879800	Active TSS	NHDF-Ad	bronchial
28	chr13:48877200-48880000	Active TSS	Aorta	Aorta
29	chr13:48877200-48880200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:48877400-48879400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr13:48877400-48879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48877400-48879600	Active TSS	HMEC	breast
33	chr13:48877400-48879800	Active TSS	Hela-S3	cervix
34	chr13:48877400-48880000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:48877600-48879400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:48878200-48879400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr13:48878400-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:48878400-48880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:48878600-48879400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr13:48878600-48879400	Flanking Active TSS	Liver	Liver
41	chr13:48878600-48879400	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr13:48878600-48879600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr13:48878800-48879400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr13:48878800-48879400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr13:48878800-48879400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:48878800-48879400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr13:48878800-48879400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr13:48878800-48879400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr13:48878800-48879400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr13:48878800-48879400	Flanking Active TSS	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links