Variant report

Variant	rs74090026
Chromosome Location	chr12:50443424-50443425
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50440879..50447724-chr12:50448390..50454714,11	K562	blood:
2	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
3	chr12:50441963..50444884-chr12:50445387..50446910,2	MCF-7	breast:
4	chr12:50442392..50444531-chr12:50445010..50447664,2	K562	blood:
5	chr12:50424617..50427330-chr12:50443083..50445011,2	MCF-7	breast:
6	chr12:50443166..50446140-chr12:50448387..50451467,3	K562	blood:
7	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:
8	chr12:50435507..50437968-chr12:50442114..50444463,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55975153	0.86[AFR][1000 genomes]
rs74090049	1.00[AFR][1000 genomes]
rs74090055	0.86[AFR][1000 genomes]
rs74090059	0.86[AFR][1000 genomes]
rs74090080	0.86[AFR][1000 genomes]
rs7969938	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50433400-50443800	Weak transcription	Spleen	Spleen
2	chr12:50441600-50443600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:50442600-50444000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:50443000-50447200	Enhancers	Fetal Brain Male	brain
5	chr12:50443200-50443800	Enhancers	Brain Germinal Matrix	brain
6	chr12:50443200-50444000	Enhancers	K562	blood
7	chr12:50443400-50443600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:50443400-50444000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr12:50443400-50444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:50443400-50444000	Enhancers	Fetal Brain Female	brain
11	chr12:50443400-50444000	Enhancers	Fetal Heart	heart
12	chr12:50443400-50444000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr12:50443400-50444000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:50443400-50444200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:50443400-50445000	Enhancers	Stomach Mucosa	stomach
16	chr12:50443400-50445400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:50443400-50445800	Enhancers	Placenta	Placenta

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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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