Variant report

Variant	rs17128889
Chromosome Location	chr14:56359431-56359432
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12431769	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432219	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435758	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35988541	1.00[ASN][1000 genomes]
rs4898876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898877	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723590	1.00[ASN][1000 genomes]
rs72723598	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56356000-56360200	Weak transcription	Fetal Brain Male	brain
2	chr14:56356000-56361200	Weak transcription	Fetal Brain Female	brain
3	chr14:56356200-56360600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:56356200-56362600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:56356400-56360000	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:56357400-56359600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:56357800-56359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:56358000-56359800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:56358000-56359800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:56358800-56359800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:56358800-56359800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:56358800-56360200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:56359000-56359600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:56359000-56359800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:56359200-56361400	Enhancers	Psoas Muscle	Psoas
16	chr14:56359400-56361400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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