Variant report

Variant	rs74062623
Chromosome Location	chr12:12100383-12100384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61733245	1.00[AMR][1000 genomes]
rs7297820	1.00[AMR][1000 genomes]
rs7297825	1.00[AMR][1000 genomes]
rs7311616	1.00[AMR][1000 genomes]
rs74064614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:12095200-12100400	Weak transcription	Stomach Mucosa	stomach
2	chr12:12097200-12102600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:12098400-12103800	Enhancers	Fetal Thymus	thymus
4	chr12:12098800-12100400	Enhancers	Fetal Brain Male	brain
5	chr12:12098800-12101400	Enhancers	Dnd41	blood
6	chr12:12099000-12102600	Weak transcription	Fetal Brain Female	brain
7	chr12:12099800-12101000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:12100000-12100400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:12100000-12100400	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:12100000-12100600	Bivalent Enhancer	HepG2	liver
11	chr12:12100000-12100800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:12100000-12100800	Enhancers	Fetal Muscle Leg	muscle
13	chr12:12100000-12101000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:12100200-12100400	Enhancers	Gastric	stomach
15	chr12:12100200-12100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12100200-12101400	Enhancers	Thymus	Thymus
17	chr12:12100200-12102000	Weak transcription	Brain Germinal Matrix	brain

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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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