Variant report

Variant	rs17299506
Chromosome Location	chr5:14172958-14172959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14167574..14170191-chr5:14172276..14175858,4	MCF-7	breast:
2	chr5:14172374..14175679-chr5:14185951..14189494,3	MCF-7	breast:
3	chr5:14170364..14173641-chr5:14174629..14176326,3	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs13175673	1.00[CHB][hapmap]
rs13184211	1.00[CHB][hapmap]
rs13184670	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs151901	1.00[ASN][1000 genomes]
rs151902	1.00[ASN][1000 genomes]
rs164858	1.00[ASN][1000 genomes]
rs17299045	1.00[CHB][hapmap]
rs17302408	1.00[CHB][hapmap]
rs187125	1.00[CHB][hapmap]
rs187386	1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap]
rs245447	1.00[ASN][1000 genomes]
rs245448	1.00[ASN][1000 genomes]
rs245470	1.00[ASN][1000 genomes]
rs245512	1.00[ASN][1000 genomes]
rs26057	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs26058	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs26059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs26060	1.00[ASN][1000 genomes]
rs26061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs27665	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs27759	1.00[ASN][1000 genomes]
rs28010	1.00[CHB][hapmap];1.00[CHD][hapmap];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[ASN][1000 genomes]
rs32339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs32341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs32388	1.00[ASN][1000 genomes]
rs32389	1.00[ASN][1000 genomes]
rs32390	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs32391	1.00[ASN][1000 genomes]
rs32394	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs32395	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[CHB][hapmap];1.00[ASN][1000 genomes]
rs354299	1.00[ASN][1000 genomes]
rs354300	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs354301	1.00[ASN][1000 genomes]
rs354305	1.00[CHB][hapmap]
rs354310	1.00[ASN][1000 genomes]
rs354311	1.00[ASN][1000 genomes]
rs354312	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs35594035	1.00[ASN][1000 genomes]
rs3849082	1.00[CHB][hapmap]
rs397098	1.00[ASN][1000 genomes]
rs39856	1.00[CHB][hapmap]
rs407517	1.00[ASN][1000 genomes]
rs424275	0.83[ASN][1000 genomes]
rs445553	1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs533517	1.00[ASN][1000 genomes]
rs56235530	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:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	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
14	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
rs17299506	MYO10	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14157800-14173000	Weak transcription	Colonic Mucosa	Colon
2	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
3	chr5:14165000-14174600	Genic enhancers	HSMM	muscle
4	chr5:14165200-14175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:14165400-14174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:14165600-14175000	Enhancers	NHDF-Ad	bronchial
7	chr5:14165800-14175200	Enhancers	Colon Smooth Muscle	Colon
8	chr5:14166000-14174000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:14166000-14174000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:14166000-14176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:14166200-14173600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:14166400-14173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:14166400-14173800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:14166400-14177600	Weak transcription	Hela-S3	cervix
15	chr5:14167000-14174200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:14167200-14173400	Weak transcription	Gastric	stomach
17	chr5:14167200-14174200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:14167200-14176000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:14167400-14173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:14167400-14173800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:14167600-14174000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:14168400-14175200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:14168600-14173800	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:14169000-14173800	Weak transcription	Stomach Mucosa	stomach
25	chr5:14169200-14173400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:14169200-14173600	Weak transcription	Fetal Stomach	stomach
27	chr5:14169200-14173800	Weak transcription	Brain Germinal Matrix	brain
28	chr5:14169200-14174400	Weak transcription	Pancreas	Pancrea
29	chr5:14169200-14180400	Enhancers	HepG2	liver
30	chr5:14170000-14174000	Enhancers	HUVEC	blood vessel
31	chr5:14170000-14174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:14170000-14174800	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:14170200-14174000	Weak transcription	Fetal Intestine Large	intestine
34	chr5:14170800-14174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:14171200-14173000	Enhancers	Primary T cells from cord blood	blood
36	chr5:14171200-14174200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:14171200-14174200	Enhancers	NH-A	brain
38	chr5:14171200-14174800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:14171200-14174800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:14171200-14175000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:14171200-14175400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:14171400-14173000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:14171400-14173200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr5:14171400-14173200	Enhancers	Adipose Nuclei	Adipose
45	chr5:14171400-14173200	Enhancers	Liver	Liver
46	chr5:14171400-14174000	Enhancers	Stomach Smooth Muscle	stomach
47	chr5:14171400-14175000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:14171400-14176000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:14171600-14173000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:14171600-14173000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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