Variant report

Variant	rs7172249
Chromosome Location	chr15:93650721-93650722
allele	C/T
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:7)

rs_ID	r²[population]
rs2388024	1.00[ASN][1000 genomes]
rs28412439	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28873761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73460386	1.00[ASN][1000 genomes]
rs74029259	1.00[ASN][1000 genomes]
rs8036611	1.00[AMR][1000 genomes]
rs8040063	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
3	nsv833096	chr15:93584742-93766257	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv916180	chr15:93613475-94150693	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr15:93635600-93652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93646800-93664600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:93647400-93650800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:93647800-93654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:93649200-93654200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:93649400-93652400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:93649400-93652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:93650400-93651400	Enhancers	Dnd41	blood
9	chr15:93650400-93653200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:93650600-93650800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr15:93650600-93651000	Enhancers	Fetal Thymus	thymus
12	chr15:93650600-93652000	Strong transcription	Skeletal Muscle Male	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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