Variant report

Variant	rs32390
Chromosome Location	chr5:14219717-14219718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
2	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
3	chr5:14142853..14145531-chr5:14217598..14220636,3	MCF-7	breast:
4	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:
5	chr5:14219689..14221561-chr5:14226743..14228313,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 71 )
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];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	0.96[AFR][1000 genomes];0.97[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	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap]
rs245447	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[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];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs26059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[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];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.86[AMR][1000 genomes];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];0.90[MEX][hapmap];1.00[TSI][hapmap];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	0.84[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];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32394	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]
rs32395	0.84[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354305	1.00[CHB][hapmap]
rs354310	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849082	1.00[CHB][hapmap]
rs397098	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	1.00[CHB][hapmap]
rs407517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs533517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.87[AFR][1000 genomes];0.96[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:5 , 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	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
rs32390	MYO10	cis	parietal	SCAN

Chromatin state (count:109 , 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	chr5:14214800-14220800	Enhancers	HepG2	liver
3	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:14215200-14221000	Enhancers	NHDF-Ad	bronchial
5	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:14215400-14220400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:14215400-14221600	Enhancers	GM12878-XiMat	blood
8	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:14216000-14219800	Enhancers	HMEC	breast
10	chr5:14216000-14220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:14216000-14220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:14216000-14221600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:14216000-14221600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:14216200-14220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:14216200-14221000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:14216200-14221400	Enhancers	Small Intestine	intestine
20	chr5:14216200-14221600	Enhancers	Fetal Heart	heart
21	chr5:14216200-14221800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:14216200-14221800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:14216400-14221600	Enhancers	HSMMtube	muscle
24	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:14216600-14219800	Enhancers	Fetal Stomach	stomach
26	chr5:14216600-14222000	Enhancers	Left Ventricle	heart
27	chr5:14216800-14219800	Enhancers	Placenta	Placenta
28	chr5:14216800-14220000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:14216800-14221200	Enhancers	Fetal Muscle Leg	muscle
30	chr5:14216800-14221400	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:14216800-14221800	Enhancers	Fetal Intestine Small	intestine
32	chr5:14216800-14222000	Enhancers	Adipose Nuclei	Adipose
33	chr5:14216800-14222000	Enhancers	Fetal Intestine Large	intestine
34	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
35	chr5:14217000-14219800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:14217000-14219800	Enhancers	Lung	lung
37	chr5:14217000-14219800	Enhancers	Pancreas	Pancrea
38	chr5:14217000-14219800	Enhancers	Right Ventricle	heart
39	chr5:14217000-14220400	Enhancers	Brain Germinal Matrix	brain
40	chr5:14217000-14221200	Enhancers	NH-A	brain
41	chr5:14217000-14221400	Enhancers	Liver	Liver
42	chr5:14217000-14221800	Enhancers	Primary B cells from cord blood	blood
43	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:14217200-14219800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:14217200-14220200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:14217400-14219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:14217400-14219800	Enhancers	Brain Cingulate Gyrus	brain
48	chr5:14217400-14219800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:14217400-14220000	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:14217400-14220400	Enhancers	Primary T cells from cord blood	blood

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