Variant report

Variant	rs12468326
Chromosome Location	chr2:171781651-171781652
allele	A/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]
rs10930447	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11899713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465605	0.98[ASN][1000 genomes]
rs16859026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859028	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859076	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17505447	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17608242	0.90[EUR][1000 genomes]
rs2081767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356424	0.80[AMR][1000 genomes]
rs3731993	0.83[AMR][1000 genomes]
rs3770436	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3886463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57556696	1.00[AFR][1000 genomes];1.00[AMR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171775000-171784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:171778200-171784800	Weak transcription	Right Ventricle	heart
3	chr2:171778400-171785000	Weak transcription	Right Atrium	heart
4	chr2:171779000-171784600	Weak transcription	Fetal Heart	heart
5	chr2:171779400-171781800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:171779600-171781800	ZNF genes & repeats	Dnd41	blood
7	chr2:171779600-171782800	Weak transcription	HepG2	liver
8	chr2:171781000-171784800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:171781200-171784400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:171781200-171784800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:171781200-171784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:171781200-171784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:171781400-171783800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:171781600-171784800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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