Variant report

Variant	rs12145069
Chromosome Location	chr1:216777182-216777183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735488	0.93[ASN][1000 genomes]
rs10735489	0.81[ASN][1000 genomes]
rs10779266	0.83[ASN][1000 genomes]
rs1335964	0.97[ASN][1000 genomes]
rs1498277	0.80[ASN][1000 genomes]
rs1498283	0.80[ASN][1000 genomes]
rs1857403	0.96[ASN][1000 genomes]
rs1857406	0.80[ASN][1000 genomes]
rs2201838	0.98[ASN][1000 genomes]
rs4344380	0.92[ASN][1000 genomes]
rs6604637	0.93[ASN][1000 genomes]
rs6662267	0.96[ASN][1000 genomes]
rs6673467	0.93[ASN][1000 genomes]
rs7535976	0.91[ASN][1000 genomes]
rs7542567	0.82[ASN][1000 genomes]
rs7550258	0.94[ASN][1000 genomes]
rs945451	0.81[ASN][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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216775000-216777600	Weak transcription	Left Ventricle	heart
2	chr1:216775000-216779200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:216775000-216780200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:216775200-216777600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:216775200-216778200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:216775200-216778400	Weak transcription	Fetal Lung	lung
7	chr1:216775200-216779200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:216775200-216779200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:216775200-216779400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:216775200-216779400	Weak transcription	Fetal Stomach	stomach
11	chr1:216775200-216789400	Weak transcription	Right Atrium	heart
12	chr1:216775200-216835400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:216775400-216777400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:216775400-216777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:216775400-216778600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:216775600-216778200	Weak transcription	Fetal Heart	heart
17	chr1:216775600-216783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:216776400-216777600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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