Variant report

Variant	rs32394
Chromosome Location	chr5:14223271-14223272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14090951..14093130-chr5:14221459..14223620,2	MCF-7	breast:
2	chr5:14208718..14210665-chr5:14222445..14224671,2	MCF-7	breast:
3	chr5:14220578..14224492-chr5:14225553..14229108,5	MCF-7	breast:
4	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
5	chr5:14143292..14147216-chr5:14223184..14226021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs13175673	1.00[CHB][hapmap]
rs13184211	1.00[CHB][hapmap]
rs13184670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299045	1.00[CHB][hapmap]
rs17299506	1.00[ASN][1000 genomes]
rs17302408	1.00[CHB][hapmap]
rs187125	1.00[CHB][hapmap]
rs187386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap]
rs245447	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245470	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs26059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	1.00[CHB][hapmap]
rs30617	1.00[CHB][hapmap]
rs30619	1.00[CHB][hapmap]
rs30620	1.00[CHB][hapmap]
rs32335	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs354287	0.83[ASN][1000 genomes]
rs354288	1.00[ASN][1000 genomes]
rs354298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354305	1.00[CHB][hapmap]
rs354310	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849082	1.00[CHB][hapmap]
rs397098	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	1.00[CHB][hapmap]
rs407517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs533517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706271	1.00[CHB][hapmap]
rs773701	1.00[CHB][hapmap]
rs773702	1.00[CHB][hapmap]
rs773703	1.00[CHB][hapmap]
rs773763	1.00[CHB][hapmap]
rs923616	1.00[CHB][hapmap]

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	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs32394	MYO10	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
6	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:14218400-14230000	Weak transcription	NHEK	skin
8	chr5:14219200-14223600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:14219200-14223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:14219200-14223800	Enhancers	Thymus	Thymus
11	chr5:14219200-14225400	Weak transcription	Esophagus	oesophagus
12	chr5:14219200-14228800	Enhancers	Fetal Thymus	thymus
13	chr5:14219600-14223800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr5:14219600-14225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:14219800-14223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:14219800-14223400	Weak transcription	Ovary	ovary
17	chr5:14219800-14223600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:14219800-14225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:14219800-14226000	Weak transcription	Aorta	Aorta
20	chr5:14219800-14226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:14219800-14227200	Weak transcription	Gastric	stomach
22	chr5:14219800-14229400	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:14219800-14231000	Weak transcription	HMEC	breast
24	chr5:14219800-14231200	Weak transcription	Fetal Stomach	stomach
25	chr5:14220000-14223400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:14220000-14225200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:14220000-14229400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:14220000-14230000	Weak transcription	Fetal Brain Female	brain
29	chr5:14220200-14223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:14220400-14223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:14220400-14223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:14220400-14229400	Weak transcription	Brain Germinal Matrix	brain
33	chr5:14220600-14223600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:14220800-14223400	Weak transcription	HepG2	liver
35	chr5:14221000-14226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:14221200-14224000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:14221200-14226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:14221200-14227200	Weak transcription	Fetal Lung	lung
39	chr5:14221400-14223400	Enhancers	Primary T cells from cord blood	blood
40	chr5:14221400-14223400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:14221400-14223600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:14221400-14223600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:14221400-14227200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:14221400-14227400	Weak transcription	Liver	Liver
45	chr5:14221600-14223400	Weak transcription	Fetal Heart	heart
46	chr5:14221600-14223600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:14221600-14223800	Genic enhancers	HSMMtube	muscle
48	chr5:14221600-14224200	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr5:14221600-14226800	Weak transcription	NHLF	lung
50	chr5:14221600-14227200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links