Variant report

Variant	rs7138562
Chromosome Location	chr12:4229988-4229989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11832512	1.00[EUR][1000 genomes]
rs759308	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4224200-4230000	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:4226400-4230800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
4	chr12:4227400-4231000	Enhancers	Fetal Muscle Trunk	muscle
5	chr12:4227600-4230200	Enhancers	HSMM	muscle
6	chr12:4227800-4231200	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:4228000-4231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:4228000-4231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:4228800-4231200	Enhancers	Fetal Muscle Leg	muscle
10	chr12:4229200-4245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:4229600-4230600	Weak transcription	Fetal Thymus	thymus
12	chr12:4229800-4230000	Enhancers	Small Intestine	intestine
13	chr12:4229800-4231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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