Variant report

Variant	rs16931423
Chromosome Location	chr12:4541951-4541952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11832225	1.00[EUR][1000 genomes]
rs11835600	1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12310230	1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12317697	1.00[EUR][1000 genomes]
rs12318331	1.00[EUR][1000 genomes]
rs17177340	1.00[EUR][1000 genomes]
rs17177360	1.00[EUR][1000 genomes]
rs17183536	1.00[EUR][1000 genomes]
rs17183682	1.00[EUR][1000 genomes]
rs17183710	1.00[EUR][1000 genomes]
rs17183723	1.00[EUR][1000 genomes]
rs17183737	1.00[EUR][1000 genomes]
rs17183792	1.00[EUR][1000 genomes]
rs56182400	1.00[EUR][1000 genomes]
rs56196412	1.00[EUR][1000 genomes]
rs57806527	1.00[EUR][1000 genomes]
rs58880130	1.00[EUR][1000 genomes]
rs7315154	1.00[MEX][hapmap]
rs73253459	1.00[EUR][1000 genomes]
rs73257423	1.00[EUR][1000 genomes]
rs74060036	1.00[EUR][1000 genomes]
rs7961645	0.83[ASW][hapmap]
rs7974906	1.00[EUR][1000 genomes]
rs7978924	1.00[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4533200-4542200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:4533400-4549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4540400-4542000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:4540600-4545400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:4540800-4543400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:4541000-4542000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:4541000-4542600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:4541200-4542200	Enhancers	Placenta	Placenta
9	chr12:4541600-4543200	Enhancers	Fetal Heart	heart
10	chr12:4541600-4544200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:4541600-4544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:4541800-4543600	Enhancers	Right Ventricle	heart
13	chr12:4541800-4543800	Enhancers	HSMMtube	muscle
14	chr12:4541800-4544400	Enhancers	Psoas Muscle	Psoas
15	chr12:4541800-4544600	Enhancers	Fetal Muscle Trunk	muscle

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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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