Variant report

Variant	rs32391
Chromosome Location	chr5:14221675-14221676
allele	G/T
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	chr5:14220578..14224492-chr5:14225553..14229108,5	MCF-7	breast:
3	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
4	chr5:14220084..14222429-chr5:14232339..14235006,2	MCF-7	breast:

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];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap]
rs245447	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245470	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	0.87[AMR][1000 genomes];0.99[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];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[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];0.96[TSI][hapmap]
rs26059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26060	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.89[AMR][1000 genomes];0.99[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];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.99[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	0.87[AMR][1000 genomes];0.97[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];0.86[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];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];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	0.87[AMR][1000 genomes];0.99[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];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs354305	1.00[CHB][hapmap]
rs354310	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[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];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849082	1.00[CHB][hapmap]
rs397098	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	1.00[CHB][hapmap]
rs407517	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs533517	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[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
rs32391	MYO10	cis	parietal	SCAN

Chromatin state (count:103 , 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	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:14216200-14221800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:14216200-14221800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:14216600-14222000	Enhancers	Left Ventricle	heart
12	chr5:14216800-14221800	Enhancers	Fetal Intestine Small	intestine
13	chr5:14216800-14222000	Enhancers	Adipose Nuclei	Adipose
14	chr5:14216800-14222000	Enhancers	Fetal Intestine Large	intestine
15	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
16	chr5:14217000-14221800	Enhancers	Primary B cells from cord blood	blood
17	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:14217400-14222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:14217400-14223000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:14217600-14221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:14217800-14221800	Weak transcription	Fetal Brain Male	brain
22	chr5:14218000-14221800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:14218000-14222000	Enhancers	Right Atrium	heart
24	chr5:14218000-14222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14218400-14222000	Enhancers	Psoas Muscle	Psoas
26	chr5:14218400-14230000	Weak transcription	NHEK	skin
27	chr5:14218600-14222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:14219000-14223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:14219200-14223600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:14219200-14223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:14219200-14223800	Enhancers	Thymus	Thymus
32	chr5:14219200-14225400	Weak transcription	Esophagus	oesophagus
33	chr5:14219200-14228800	Enhancers	Fetal Thymus	thymus
34	chr5:14219400-14221800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:14219600-14221800	Enhancers	Colon Smooth Muscle	Colon
36	chr5:14219600-14223800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr5:14219600-14225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:14219800-14221800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:14219800-14221800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:14219800-14221800	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:14219800-14222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:14219800-14222800	Weak transcription	Lung	lung
43	chr5:14219800-14222800	Weak transcription	Right Ventricle	heart
44	chr5:14219800-14222800	Weak transcription	Spleen	Spleen
45	chr5:14219800-14223200	Weak transcription	Placenta	Placenta
46	chr5:14219800-14223200	Weak transcription	Pancreas	Pancrea
47	chr5:14219800-14223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:14219800-14223400	Weak transcription	Ovary	ovary
49	chr5:14219800-14223600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14219800-14225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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