Variant report

Variant	rs17139556
Chromosome Location	chr5:115698120-115698121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10519460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073205	0.84[EUR][1000 genomes]
rs11948686	1.00[EUR][1000 genomes]
rs11949705	0.92[ASN][1000 genomes]
rs11956927	0.84[EUR][1000 genomes]
rs17139530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139552	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139565	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139591	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4920914	1.00[EUR][1000 genomes]
rs4921092	0.84[EUR][1000 genomes]
rs4921093	0.84[EUR][1000 genomes]
rs4921095	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55702251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55817922	0.84[EUR][1000 genomes]
rs56947773	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57067978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57362825	0.92[EUR][1000 genomes]
rs57753916	0.83[ASN][1000 genomes]
rs59570866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59951603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594964	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6594965	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874012	0.84[EUR][1000 genomes]
rs6878067	1.00[ASN][1000 genomes]
rs6893952	0.84[EUR][1000 genomes]
rs712590	0.84[EUR][1000 genomes]
rs73263060	0.84[EUR][1000 genomes]
rs73264968	1.00[EUR][1000 genomes]
rs73266811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781050	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705979	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716923	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727761	1.00[ASN][1000 genomes]
rs7734398	0.84[EUR][1000 genomes]
rs7737229	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2753353	chr5:115696118-115699265	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:115687200-115706400	Weak transcription	Liver	Liver
4	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
5	chr5:115695200-115700000	Weak transcription	K562	blood
6	chr5:115695800-115706600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
8	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:115696800-115698200	Enhancers	Fetal Heart	heart
12	chr5:115697000-115700600	Weak transcription	GM12878-XiMat	blood
13	chr5:115697600-115698200	Enhancers	Esophagus	oesophagus
14	chr5:115697600-115698200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:115697600-115698400	Enhancers	Right Ventricle	heart
16	chr5:115697600-115699000	Strong transcription	Primary T cells from cord blood	blood
17	chr5:115697600-115700600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:115697600-115705400	Weak transcription	Left Ventricle	heart
19	chr5:115697600-115707400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:115697600-115708200	Weak transcription	Lung	lung
21	chr5:115697600-115712000	Weak transcription	Aorta	Aorta
22	chr5:115697600-115714000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:115697800-115698400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:115697800-115699400	Strong transcription	Primary B cells from cord blood	blood
26	chr5:115697800-115706600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:115697800-115706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:115697800-115708200	Weak transcription	Psoas Muscle	Psoas
29	chr5:115697800-115708400	Weak transcription	Colonic Mucosa	Colon
30	chr5:115698000-115698200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:115698000-115700800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea

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