Variant report

Variant	rs6860385
Chromosome Location	chr5:56991331-56991332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10057804	0.86[AFR][1000 genomes]
rs10063185	0.88[EUR][1000 genomes]
rs10461637	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10487615	0.88[AFR][1000 genomes]
rs10805498	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10940571	0.99[EUR][1000 genomes]
rs10940572	0.99[EUR][1000 genomes]
rs10940573	0.99[EUR][1000 genomes]
rs10940575	0.86[EUR][1000 genomes]
rs10940576	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11742452	0.98[EUR][1000 genomes]
rs11955303	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12523268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12654040	0.86[AFR][1000 genomes]
rs12654403	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13157214	0.99[EUR][1000 genomes]
rs13162397	0.89[EUR][1000 genomes]
rs13166729	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13176491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13177213	0.98[EUR][1000 genomes]
rs13183265	0.99[EUR][1000 genomes]
rs13184846	0.99[EUR][1000 genomes]
rs13185021	0.99[EUR][1000 genomes]
rs13186318	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1558367	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16887298	0.88[AFR][1000 genomes]
rs1860575	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041402	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041403	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041677	0.87[EUR][1000 genomes]
rs2191444	0.86[ASN][1000 genomes]
rs2191447	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2215418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2215419	0.87[AFR][1000 genomes]
rs2408845	0.99[EUR][1000 genomes]
rs2408847	0.88[EUR][1000 genomes]
rs2408848	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4141129	0.86[EUR][1000 genomes]
rs4700212	0.99[EUR][1000 genomes]
rs4700213	0.99[EUR][1000 genomes]
rs4700215	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4700217	0.88[EUR][1000 genomes]
rs58041565	0.82[AFR][1000 genomes]
rs6862527	0.84[AFR][1000 genomes]
rs6872973	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6885246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7711714	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7717808	0.85[AFR][1000 genomes]
rs7725863	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7726116	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292141	0.88[EUR][1000 genomes]
rs978225	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs984529	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56986800-56991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:56987000-56992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
4	chr5:56987600-56991400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:56987600-56991800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:56988200-56993400	Enhancers	Brain Angular Gyrus	brain
7	chr5:56988400-56991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:56988400-56991800	Enhancers	Fetal Lung	lung
9	chr5:56988600-56995400	Enhancers	Adipose Nuclei	Adipose
10	chr5:56989000-56992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:56989200-56991600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:56989400-56996000	Enhancers	Fetal Heart	heart
13	chr5:56989600-56991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:56989600-56992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:56989600-56992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:56989600-56992600	Weak transcription	NHLF	lung
17	chr5:56989600-56993000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:56989600-56993400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:56989600-56994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:56989600-56994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:56989600-56996400	Weak transcription	Psoas Muscle	Psoas
22	chr5:56989800-56991800	Weak transcription	K562	blood
23	chr5:56989800-56992000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:56989800-56992200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:56989800-56992600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:56989800-56992600	Weak transcription	NHDF-Ad	bronchial
27	chr5:56989800-56993000	Enhancers	Brain Anterior Caudate	brain
28	chr5:56989800-56993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:56989800-56993600	Weak transcription	HSMM	muscle
30	chr5:56990000-56992000	Weak transcription	HUVEC	blood vessel
31	chr5:56990000-56992600	Weak transcription	Osteobl	bone
32	chr5:56990000-56993600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:56990000-56995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:56990200-56992000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:56990200-56992000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:56990200-56993000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:56990200-56993000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:56990200-56993000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:56990200-56993200	Enhancers	Brain Substantia Nigra	brain
40	chr5:56990200-57005600	Weak transcription	NH-A	brain
41	chr5:56990400-56991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:56990400-56992600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:56990400-56992800	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:56990400-56992800	Enhancers	Fetal Intestine Small	intestine
45	chr5:56990400-56996200	Enhancers	HMEC	breast
46	chr5:56990600-56991400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:56990600-56991400	Flanking Active TSS	A549	lung
48	chr5:56990600-56991600	Enhancers	Pancreas	Pancrea
49	chr5:56990600-56992000	Flanking Active TSS	HepG2	liver
50	chr5:56990600-56992200	Enhancers	Right Atrium	heart

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