Variant report

Variant	rs12595140
Chromosome Location	chr15:83470692-83470693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12595423	1.00[EUR][1000 genomes]
rs12595713	0.94[ASN][1000 genomes]
rs1553884	1.00[AMR][1000 genomes]
rs59593645	1.00[EUR][1000 genomes]
rs61374112	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73439122	1.00[AMR][1000 genomes]
rs73443029	1.00[AMR][1000 genomes]
rs73443066	1.00[AMR][1000 genomes]
rs73445046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv977072	chr15:83467994-83473044	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83469200-83471000	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:83469200-83471000	Weak transcription	Right Atrium	heart
4	chr15:83469200-83477600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:83469400-83477600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:83469800-83471400	Enhancers	K562	blood
7	chr15:83469800-83471800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr15:83469800-83477400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:83470000-83471600	Enhancers	Left Ventricle	heart
10	chr15:83470000-83472600	Enhancers	Psoas Muscle	Psoas
11	chr15:83470200-83472600	Enhancers	Right Ventricle	heart
12	chr15:83470400-83471400	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:83470400-83471800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
14	chr15:83470400-83472000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:83470400-83472000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:83470600-83470800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr15:83470600-83471000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:83470600-83471200	Enhancers	Fetal Heart	heart

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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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