Variant report

Variant	rs6443514
Chromosome Location	chr3:177623785-177623786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1244565	0.80[ASN][1000 genomes]
rs13068181	0.88[EUR][1000 genomes]
rs1421165	0.84[EUR][1000 genomes]
rs1833405	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349514	0.88[EUR][1000 genomes]
rs4453861	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4478092	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6443513	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6443516	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782448	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6784158	0.85[EUR][1000 genomes]
rs6786110	0.83[CHD][hapmap]
rs6801902	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6809579	0.87[EUR][1000 genomes]
rs7643155	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6443514	ATP11B	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177617800-177628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:177620200-177624400	Enhancers	Fetal Brain Female	brain
3	chr3:177620600-177625200	Enhancers	NHLF	lung
4	chr3:177621200-177623800	Enhancers	Fetal Brain Male	brain
5	chr3:177621200-177625000	Enhancers	Fetal Kidney	kidney
6	chr3:177621800-177625800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:177622000-177625000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:177622000-177625000	Enhancers	NHDF-Ad	bronchial
9	chr3:177622000-177625400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:177622000-177625400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:177622200-177624200	Enhancers	Brain Angular Gyrus	brain
12	chr3:177622200-177625200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:177622400-177624400	Enhancers	A549	lung
14	chr3:177622400-177624600	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:177622400-177624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:177622400-177624800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:177622400-177625000	Enhancers	HMEC	breast
18	chr3:177622400-177625200	Enhancers	Brain Anterior Caudate	brain
19	chr3:177622600-177623800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:177622600-177624000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:177622600-177624200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:177622600-177624200	Enhancers	Brain Germinal Matrix	brain
23	chr3:177622600-177624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:177622600-177624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:177622600-177624400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:177622600-177624400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:177622600-177624400	Enhancers	Hela-S3	cervix
28	chr3:177622600-177624800	Enhancers	Colon Smooth Muscle	Colon
29	chr3:177622600-177625000	Enhancers	Aorta	Aorta
30	chr3:177622600-177625000	Enhancers	Fetal Lung	lung
31	chr3:177622600-177625000	Enhancers	Fetal Muscle Leg	muscle
32	chr3:177622600-177625200	Enhancers	Adipose Nuclei	Adipose
33	chr3:177622800-177624200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr3:177622800-177624400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:177622800-177625000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:177622800-177625000	Enhancers	Fetal Stomach	stomach
37	chr3:177623000-177625200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:177623200-177624400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:177623200-177624800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:177623200-177625000	Enhancers	Brain Hippocampus Middle	brain
41	chr3:177623400-177623800	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:177623400-177623800	Flanking Active TSS	HSMM	muscle
43	chr3:177623400-177623800	Flanking Active TSS	HSMMtube	muscle
44	chr3:177623400-177624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:177623400-177624000	Flanking Active TSS	NH-A	brain
46	chr3:177623400-177625000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:177623600-177624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:177623600-177624200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:177623600-177624200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:177623600-177624200	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links