Variant report

Variant	rs12537482
Chromosome Location	chr7:70008326-70008327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12532117	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455783	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455784	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455785	0.97[AMR][1000 genomes];1.00[EUR][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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69983800-70009400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:69995400-70012200	Weak transcription	Fetal Stomach	stomach
3	chr7:69996800-70017800	Weak transcription	Aorta	Aorta
4	chr7:70000200-70015400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:70004200-70009600	Enhancers	Fetal Muscle Leg	muscle
6	chr7:70004400-70008400	Weak transcription	Left Ventricle	heart
7	chr7:70006000-70008800	Weak transcription	Fetal Brain Female	brain
8	chr7:70006000-70011600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:70006200-70008800	Enhancers	Fetal Heart	heart
10	chr7:70006600-70008800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:70007400-70008600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:70007400-70008800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:70007400-70008800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:70007600-70008600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:70007800-70009400	Weak transcription	Fetal Brain Male	brain
16	chr7:70008000-70008400	Weak transcription	Psoas Muscle	Psoas
17	chr7:70008000-70008600	Weak transcription	HSMMtube	muscle
18	chr7:70008000-70008800	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:70008200-70008800	Enhancers	Rectal Mucosa Donor 31	rectum

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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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