Variant report

Variant	rs2225332
Chromosome Location	chr1:180998570-180998571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10494536	0.86[EUR][1000 genomes]
rs10797662	0.86[EUR][1000 genomes]
rs10797663	0.85[EUR][1000 genomes]
rs10797665	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11584852	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12752307	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1411479	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827708	0.85[EUR][1000 genomes]
rs6425659	0.86[EUR][1000 genomes]
rs6684455	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7546157	0.86[EUR][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180992200-181003600	Weak transcription	Gastric	stomach
2	chr1:180992800-181002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:180993200-181001800	Weak transcription	HepG2	liver
4	chr1:180994000-181002000	Weak transcription	NHLF	lung
5	chr1:180996600-180998800	Enhancers	GM12878-XiMat	blood
6	chr1:180996800-181001800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:180996800-181001800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:180997000-181002000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:180997200-180998600	Enhancers	NHDF-Ad	bronchial
10	chr1:180997200-181001600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:180997400-180998600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:180997600-181002200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:180997600-181002200	Weak transcription	Osteobl	bone
14	chr1:180998000-181002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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

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