Variant report

Variant	rs12930844
Chromosome Location	chr16:52289127-52289128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10521261	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1080489	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1080490	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12325489	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12599310	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12930272	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1362376	0.92[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420208	0.80[ASN][1000 genomes]
rs16950964	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34214423	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34296884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35338484	0.80[ASN][1000 genomes]
rs3826196	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67253370	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67505663	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67753568	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72794118	0.96[AMR][1000 genomes];0.99[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	nsv492248	chr16:51681902-52456082	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv34024	chr16:51878565-52316530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52280400-52301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:52285800-52289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:52286800-52298400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:52286800-52299200	Weak transcription	Fetal Brain Male	brain
5	chr16:52287200-52289600	Weak transcription	Stomach Mucosa	stomach
6	chr16:52287400-52295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:52287600-52295400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:52288000-52289200	Enhancers	HUVEC	blood vessel
9	chr16:52288000-52289200	Enhancers	NHEK	skin
10	chr16:52288200-52289200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:52288200-52289200	Enhancers	NH-A	brain
12	chr16:52288600-52289200	Enhancers	Fetal Kidney	kidney

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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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