Variant report

Variant	rs60032314
Chromosome Location	chr5:115705487-115705488
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	chr5:115704428..115706706-chr5:115709540..115711421,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6A-1	chr5:115703287-115706170	ENSG00000249280
2	lnc-SEMA6A-1	chr5:115703113-115706170	NONHSAT103361

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13360956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139822	1.00[EUR][1000 genomes]
rs1863988	1.00[EUR][1000 genomes]
rs1963859	1.00[EUR][1000 genomes]
rs57331771	1.00[EUR][1000 genomes]
rs57894479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58112531	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59453842	1.00[EUR][1000 genomes]
rs59710297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59909017	1.00[EUR][1000 genomes]
rs60114388	1.00[AMR][1000 genomes]
rs60372854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60456887	1.00[EUR][1000 genomes]
rs73259047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259092	1.00[EUR][1000 genomes]
rs73261010	1.00[EUR][1000 genomes]
rs73261020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261052	1.00[AMR][1000 genomes]
rs73261087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263071	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266864	1.00[AMR][1000 genomes]
rs73268917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268959	1.00[EUR][1000 genomes]
rs73268964	1.00[EUR][1000 genomes]
rs73268967	1.00[EUR][1000 genomes]
rs73268975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270707	1.00[EUR][1000 genomes]
rs73270746	1.00[EUR][1000 genomes]

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	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	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
4	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
5	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

No data

Chromatin state (count:35 , 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	chr5:115695800-115706600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
7	chr5:115696000-115708000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:115696400-115707600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:115696400-115708400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:115697600-115707400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:115697600-115708200	Weak transcription	Lung	lung
12	chr5:115697600-115712000	Weak transcription	Aorta	Aorta
13	chr5:115697600-115714000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:115697800-115706600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:115697800-115706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:115697800-115708200	Weak transcription	Psoas Muscle	Psoas
18	chr5:115697800-115708400	Weak transcription	Colonic Mucosa	Colon
19	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
20	chr5:115698400-115714000	Weak transcription	Right Ventricle	heart
21	chr5:115699400-115710200	Weak transcription	Primary B cells from cord blood	blood
22	chr5:115701400-115706200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:115702800-115706000	Weak transcription	Fetal Kidney	kidney
24	chr5:115705200-115706800	Enhancers	K562	blood
25	chr5:115705200-115707400	Enhancers	Primary T cells from cord blood	blood
26	chr5:115705200-115713000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:115705400-115705600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:115705400-115705600	Enhancers	Adipose Nuclei	Adipose
29	chr5:115705400-115705600	Enhancers	Esophagus	oesophagus
30	chr5:115705400-115705800	Enhancers	Left Ventricle	heart
31	chr5:115705400-115706000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:115705400-115706200	Enhancers	Fetal Thymus	thymus
33	chr5:115705400-115706600	Enhancers	HUVEC	blood vessel
34	chr5:115705400-115706800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:115705400-115707200	Enhancers	HUES48 Cell Line	embryonic stem cell

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