Variant report

Variant	rs73276676
Chromosome Location	chr14:68200048-68200049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68198132..68200184-chr14:68201733..68204809,3	K562	blood:

Variant related genes	Relation type
ENSG00000271697	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12147055	0.82[AFR][1000 genomes]
rs12147616	0.82[AFR][1000 genomes]
rs12880440	0.82[AFR][1000 genomes]
rs12882315	0.82[AFR][1000 genomes]
rs12884644	0.82[AFR][1000 genomes]
rs12884764	0.82[AFR][1000 genomes]
rs12887092	0.82[AFR][1000 genomes]
rs12889011	0.82[AFR][1000 genomes]
rs12889527	0.82[AFR][1000 genomes]
rs12892919	0.82[AFR][1000 genomes]
rs12893900	0.82[AFR][1000 genomes]
rs12893907	0.82[AFR][1000 genomes]
rs12895217	0.82[AFR][1000 genomes]
rs12898042	0.82[AFR][1000 genomes]
rs2273160	0.86[AFR][1000 genomes]
rs34805563	1.00[AMR][1000 genomes]
rs35080917	1.00[AMR][1000 genomes]
rs35106153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35575056	1.00[AMR][1000 genomes]
rs35577122	1.00[AMR][1000 genomes]
rs35917338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57024266	1.00[AMR][1000 genomes]
rs57048278	1.00[AMR][1000 genomes]
rs58431859	1.00[AMR][1000 genomes]
rs58724136	1.00[AMR][1000 genomes]
rs59429458	1.00[AMR][1000 genomes]
rs59589798	1.00[AMR][1000 genomes]
rs59922989	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60273960	1.00[AMR][1000 genomes]
rs60782801	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61214213	1.00[AMR][1000 genomes]
rs61341378	1.00[AMR][1000 genomes]
rs61584136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272331	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276687	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276693	0.89[AFR][1000 genomes]
rs73278432	1.00[AMR][1000 genomes]
rs73278469	1.00[AMR][1000 genomes]
rs73280405	1.00[AMR][1000 genomes]
rs73280424	1.00[AMR][1000 genomes]
rs73280429	1.00[AMR][1000 genomes]
rs73280438	1.00[AMR][1000 genomes]
rs73280465	1.00[AMR][1000 genomes]
rs73280477	1.00[AMR][1000 genomes]
rs73280481	1.00[AMR][1000 genomes]
rs73280491	1.00[AMR][1000 genomes]
rs73282413	1.00[AMR][1000 genomes]
rs73282473	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189400-68200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:68194000-68202200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:68196200-68200600	Weak transcription	Brain Substantia Nigra	brain
6	chr14:68196200-68200600	Weak transcription	Lung	lung
7	chr14:68196200-68200600	Weak transcription	Pancreas	Pancrea
8	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:68196800-68201400	Weak transcription	K562	blood
10	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:68197200-68200400	Weak transcription	HepG2	liver
12	chr14:68197200-68201000	Weak transcription	Liver	Liver
13	chr14:68197200-68202000	Weak transcription	Stomach Mucosa	stomach
14	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:68198400-68201400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:68199400-68203800	Enhancers	Fetal Muscle Leg	muscle
17	chr14:68199800-68200600	Enhancers	HSMMtube	muscle
18	chr14:68199800-68202000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68200000-68202000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr14:68200000-68202000	Enhancers	Skeletal Muscle Female	skeletal muscle

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