Variant report

Variant	rs8011246
Chromosome Location	chr14:65647885-65647886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10133278	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10873187	0.83[ASN][1000 genomes]
rs11158582	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158583	0.82[EUR][1000 genomes]
rs11851179	0.84[ASN][1000 genomes]
rs12147743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437124	0.83[ASN][1000 genomes]
rs12889637	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35299636	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36066968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36120512	0.83[ASN][1000 genomes]
rs56115093	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61291180	0.83[ASN][1000 genomes]
rs61989767	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158687	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65641600-65653400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65641600-65653600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65641600-65658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65641800-65650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65641800-65653600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65646600-65648200	Enhancers	Pancreas	Pancrea
7	chr14:65647600-65648000	Enhancers	GM12878-XiMat	blood
8	chr14:65647600-65648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:65647600-65648600	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:65647600-65650600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:65647600-65650800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:65647600-65651000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:65647600-65651000	Weak transcription	Fetal Heart	heart
14	chr14:65647800-65648200	Weak transcription	Primary B cells from cord blood	blood
15	chr14:65647800-65650600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:65647800-65650600	Weak transcription	NH-A	brain
17	chr14:65647800-65650600	Weak transcription	NHEK	skin
18	chr14:65647800-65650600	Weak transcription	Osteobl	bone
19	chr14:65647800-65659800	Weak transcription	Fetal Intestine Large	intestine

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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