Variant report

Variant	rs7131733
Chromosome Location	chr12:4526350-4526351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10849059	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063142	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063143	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11063147	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063148	0.90[ASN][1000 genomes]
rs11609781	0.90[ASN][1000 genomes]
rs11615716	0.90[ASN][1000 genomes]
rs61909561	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4523200-4526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4524200-4527200	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:4524600-4527400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:4524600-4532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:4524800-4527800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:4525000-4526600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:4525000-4526600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:4525200-4526400	Weak transcription	Brain Germinal Matrix	brain
9	chr12:4525600-4526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:4526200-4526400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr12:4526200-4527200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr12:4526200-4527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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