Variant report

Variant	rs1005054
Chromosome Location	chr12:4501677-4501678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10744644	0.88[EUR][1000 genomes]
rs10774228	1.00[EUR][1000 genomes]
rs10774229	1.00[EUR][1000 genomes]
rs10849052	1.00[EUR][1000 genomes]
rs11063125	0.94[EUR][1000 genomes]
rs11063126	0.94[EUR][1000 genomes]
rs13312787	0.94[EUR][1000 genomes]
rs2011618	0.94[EUR][1000 genomes]
rs2970807	0.94[EUR][1000 genomes]
rs7138225	0.88[EUR][1000 genomes]
rs7295857	0.88[EUR][1000 genomes]
rs7313282	0.94[EUR][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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4501200-4502000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:4501200-4502000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:4501200-4502000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr12:4501200-4502000	Enhancers	Spleen	Spleen
5	chr12:4501200-4502200	Enhancers	Fetal Heart	heart
6	chr12:4501200-4502200	Enhancers	Right Atrium	heart
7	chr12:4501200-4502600	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:4501200-4502600	Enhancers	K562	blood
9	chr12:4501400-4502000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:4501400-4502200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:4501400-4502200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:4501400-4502200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr12:4501400-4502800	Enhancers	Left Ventricle	heart
14	chr12:4501600-4501800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:4501600-4501800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:4501600-4502000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr12:4501600-4502200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:4501600-4502200	Enhancers	Fetal Thymus	thymus
19	chr12:4501600-4502200	Enhancers	Right Ventricle	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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