Variant report

Variant	rs34393249
Chromosome Location	chr12:118021039-118021040
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11068551	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068579	0.81[EUR][1000 genomes]
rs11068580	0.81[EUR][1000 genomes]
rs11611523	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612054	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2393237	0.80[EUR][1000 genomes]
rs35920368	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4414314	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767570	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767571	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816196	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118018000-118021400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:118019000-118025000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:118019200-118021200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:118019200-118021200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:118019200-118021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:118019200-118021200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:118019200-118021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:118019200-118021400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:118019200-118021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:118019200-118021400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:118019200-118021600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:118019400-118021200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:118019600-118021400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:118020000-118021800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr12:118020400-118021400	Weak transcription	iPS DF 19.11 Cell Line	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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