Variant report

Variant	rs13166556
Chromosome Location	chr5:49967825-49967826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512906	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1125916	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11747930	0.86[ASN][1000 genomes]
rs11950328	0.91[ASN][1000 genomes]
rs12653772	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654329	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654399	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659764	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13159505	0.89[ASN][1000 genomes]
rs13162945	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13180000	0.80[AMR][1000 genomes]
rs13186089	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16877029	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16885842	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16886818	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1862547	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1993955	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34241669	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34389644	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34428476	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34674487	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35328303	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35571312	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806887	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3806889	0.86[ASN][1000 genomes]
rs61479216	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62365481	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62365519	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62366945	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368285	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67151831	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968305	chr5:49966431-49968246	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13166556	PARP8	cis	lung	GTEx
rs13166556	PARP8	cis	Adipose Subcutaneous	GTEx
rs13166556	PARP8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964200-49968000	Weak transcription	Spleen	Spleen
2	chr5:49964400-49968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
4	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
8	chr5:49964600-49969000	Weak transcription	Osteobl	bone
9	chr5:49964800-49968000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:49964800-49968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:49964800-49968200	Weak transcription	Fetal Stomach	stomach
12	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
18	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
19	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
20	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:49965400-49968400	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:49965400-49968400	Weak transcription	Small Intestine	intestine
23	chr5:49965400-49969400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:49965600-49968000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:49965600-49968000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:49965600-49968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:49965600-49968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:49965600-49968000	Weak transcription	Fetal Heart	heart
29	chr5:49965600-49968200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:49965600-49968600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:49965600-49976400	Weak transcription	HMEC	breast
32	chr5:49965800-49968000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:49965800-49968400	Weak transcription	Fetal Thymus	thymus
34	chr5:49965800-49969800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:49965800-49973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:49965800-49973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
38	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:49966000-49969800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:49966000-49970400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:49966000-49975400	Weak transcription	NHEK	skin
44	chr5:49966800-49968000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:49966800-49968400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:49967000-49969000	Genic enhancers	Primary T cells from cord blood	blood
47	chr5:49967200-49968200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:49967400-49968600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:49967600-49969000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:49967600-49969400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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