Variant report

Variant	rs59947976
Chromosome Location	chr12:4527005-4527006
allele	C/T
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:4)

rs_ID	r²[population]
rs17177095	1.00[AMR][1000 genomes]
rs17177102	1.00[AMR][1000 genomes]
rs56203448	1.00[AMR][1000 genomes]
rs57042528	1.00[AMR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4524200-4527200	Enhancers	Rectal Smooth Muscle	rectum
2	chr12:4524600-4527400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:4524600-4532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4524800-4527800	Enhancers	Colon Smooth Muscle	Colon
5	chr12:4526200-4527200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr12:4526200-4527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:4526400-4527200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr12:4526400-4527200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr12:4526400-4527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:4526600-4527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:4526600-4527200	Bivalent Enhancer	Fetal Brain Female	brain
12	chr12:4526600-4527200	Bivalent Enhancer	HSMMtube	muscle
13	chr12:4526600-4527400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:4526600-4527400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr12:4526800-4527400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:4526800-4527400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr12:4526800-4530600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:4527000-4527200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:4527000-4527400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	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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