Variant report

Variant	rs12476385
Chromosome Location	chr2:187821866-187821867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10931267	0.82[EUR][1000 genomes]
rs11675678	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12464291	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558491	0.85[ASN][1000 genomes]
rs3845713	0.90[EUR][1000 genomes]
rs3856420	0.93[EUR][1000 genomes]
rs4093127	0.87[EUR][1000 genomes]
rs4277485	0.92[EUR][1000 genomes]
rs4667133	0.89[EUR][1000 genomes]
rs6434200	0.86[ASN][1000 genomes]
rs6721015	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71432473	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7602307	0.92[EUR][1000 genomes]
rs7602852	0.90[EUR][1000 genomes]
rs9283495	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv528930	chr2:187808330-187832004	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187809400-187826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187821000-187822000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:187821200-187822400	Enhancers	NH-A	brain
4	chr2:187821200-187822400	Enhancers	NHEK	skin
5	chr2:187821200-187822800	Enhancers	HMEC	breast
6	chr2:187821600-187822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:187821800-187822200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:187821800-187822200	Enhancers	K562	blood
9	chr2:187821800-187822400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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