Variant report

Variant	rs7961025
Chromosome Location	chr12:123925513-123925514
allele	C/G
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]
rs11507736	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11507738	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1706475	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1706476	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1707730	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1707731	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871163	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:123921800-123928600	Weak transcription	HepG2	liver
2	chr12:123921800-123928800	Weak transcription	Right Atrium	heart
3	chr12:123921800-123929600	Weak transcription	Spleen	Spleen
4	chr12:123921800-123930200	Weak transcription	Pancreas	Pancrea
5	chr12:123921800-123930400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:123922000-123926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:123922200-123926400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:123922200-123927200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:123922400-123927400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:123922400-123928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:123922600-123926200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:123922600-123926400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:123922600-123927200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123922600-123928400	Weak transcription	Lung	lung
15	chr12:123922600-123929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:123922800-123926200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:123922800-123926200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123922800-123926600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:123925200-123926200	Enhancers	GM12878-XiMat	blood

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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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