Variant report

Variant	rs74070257
Chromosome Location	chr14:79979952-79979953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11847465	1.00[AMR][1000 genomes]
rs11848738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850829	1.00[EUR][1000 genomes]
rs11852085	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170254	1.00[EUR][1000 genomes]
rs221438	1.00[EUR][1000 genomes]
rs221441	1.00[EUR][1000 genomes]
rs221458	1.00[EUR][1000 genomes]
rs221470	1.00[EUR][1000 genomes]
rs221472	1.00[EUR][1000 genomes]
rs221515	1.00[EUR][1000 genomes]
rs4903865	1.00[EUR][1000 genomes]
rs55708063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57252489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57281369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57656995	1.00[AMR][1000 genomes]
rs58351352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58357059	1.00[AMR][1000 genomes]
rs59078244	1.00[AMR][1000 genomes]
rs59471787	1.00[AFR][1000 genomes]
rs59472910	1.00[AMR][1000 genomes]
rs59809006	1.00[AMR][1000 genomes]
rs60319911	1.00[AMR][1000 genomes]
rs60502118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60734338	1.00[AMR][1000 genomes]
rs61002775	1.00[AMR][1000 genomes]
rs61029849	1.00[AMR][1000 genomes]
rs61309702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72696784	1.00[AMR][1000 genomes]
rs74068005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74068052	1.00[AMR][1000 genomes]
rs74068054	1.00[AMR][1000 genomes]
rs74068066	1.00[AMR][1000 genomes]
rs74068069	1.00[AMR][1000 genomes]
rs74068072	1.00[AMR][1000 genomes]
rs74068091	1.00[AMR][1000 genomes]
rs74068696	1.00[AMR][1000 genomes]
rs74068697	1.00[EUR][1000 genomes]
rs74068698	1.00[EUR][1000 genomes]
rs74070211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070272	1.00[EUR][1000 genomes]
rs74070273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74070276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1811223	chr14:79967761-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1805690	chr14:79971835-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1806121	chr14:79971835-79981954	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1807999	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1809543	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1812098	chr14:79971835-79981954	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3509715	chr14:79979708-79981260	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
12	esv3509716	chr14:79979708-79981260	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79977200-79981200	Weak transcription	Osteobl	bone
3	chr14:79977400-79980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:79977400-79981200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:79977600-79980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:79977600-79980800	Weak transcription	NHEK	skin
7	chr14:79977600-79981000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:79977800-79980600	Weak transcription	NH-A	brain
9	chr14:79977800-79980800	Weak transcription	HSMM	muscle
10	chr14:79977800-79981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:79977800-79981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:79977800-79981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:79977800-79981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:79977800-79982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:79978000-79981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:79978000-79981000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:79978000-79981000	Weak transcription	HSMMtube	muscle
18	chr14:79978000-79981000	Weak transcription	NHLF	lung
19	chr14:79979200-79982800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:79979600-79981000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:79979600-79983400	Enhancers	Brain Germinal Matrix	brain

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