Variant report

Variant	rs265414
Chromosome Location	chr5:114533217-114533218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs265411	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs265412	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr5:114522800-114543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114523400-114576200	Weak transcription	Psoas Muscle	Psoas
3	chr5:114525800-114544800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:114528000-114563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:114529200-114562600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:114529800-114551000	Weak transcription	Left Ventricle	heart
7	chr5:114530200-114562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:114530200-114562600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:114530600-114548600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
11	chr5:114530800-114548000	Weak transcription	Adipose Nuclei	Adipose
12	chr5:114530800-114565200	Weak transcription	NHDF-Ad	bronchial
13	chr5:114531000-114546400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:114531000-114547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:114531000-114551200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:114531000-114558800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:114531200-114546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:114531200-114548200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:114532000-114547000	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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